Linked Data
dbSNP Id:
rs11191580
gnomAD v2:
10-104906211-T-C
gnomAD v3:
10-103146454-T-C
gnomAD v4:
10-103146454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103146454T>C , CM000672.2:g.103146454T>C | GRCh38 |
| NC_000010.10:g.104906211T>C , CM000672.1:g.104906211T>C | GRCh37 |
| NC_000010.9:g.104896201T>C | NCBI36 |
| NG_042272.1:g.51853A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369857.9:c.102-6975A>G | ENSP00000501806.1:n.102-6975A>G | |
| ENST00000404739.8:c.102-6975A>G MANE Select | ENSP00000383960.3:n.102-6975A>G | |
| ENST00000470299.2:c.101+28404A>G | ENSP00000474247.1:n.101+28404A>G | |
| ENST00000674696.1:c.102-6975A>G | ENSP00000502679.1:n.102-6975A>G | |
| ENST00000674728.1:c.102-6975A>G | ENSP00000502126.1:n.102-6975A>G | |
| ENST00000674860.1:c.102-6975A>G | ENSP00000502816.1:n.102-6975A>G | |
| ENST00000675020.1:c.101+28404A>G | ENSP00000501653.1:n.101+28404A>G | |
| ENST00000675040.1:c.102-6975A>G | ENSP00000502090.1:n.102-6975A>G | |
| ENST00000675164.1:c.102-6975A>G | ENSP00000502128.1:n.102-6975A>G | |
| ENST00000675326.1:c.102-6975A>G | ENSP00000502205.1:n.102-6975A>G | |
| ENST00000675436.1:c.102-6975A>G | ENSP00000501565.1:n.102-6975A>G | |
| ENST00000675645.1:c.102-6975A>G | ENSP00000502663.1:n.102-6975A>G | |
| ENST00000675811.1:c.102-6975A>G | ENSP00000501901.1:n.102-6975A>G | |
| ENST00000675985.1:c.14+6837A>G | ENSP00000502215.1:n.14+6837A>G | |
| ENST00000676428.1:c.102-6975A>G | ENSP00000501689.1:n.102-6975A>G | |
| ENST00000676449.1:c.102-6975A>G | ENSP00000502801.1:n.102-6975A>G | |
| ENST00000343289.9:c.102-6975A>G | ENSP00000339479.5:n.102-6975A>G | |
| ENST00000369857.8:n.38-6975A>G | ||
| ENST00000404739.7:c.102-6975A>G | ENSP00000383960.3:n.102-6975A>G | |
| ENST00000452156.5:c.102-6975A>G | ENSP00000396468.1:n.102-6975A>G | |
| ENST00000461461.5:c.102-6975A>G | ENSP00000474091.1:n.102-6975A>G | |
| ENST00000470299.1:c.101+28404A>G | ENSP00000474247.1:n.101+28404A>G | |
| NM_001134373.2:c.102-6975A>G | NP_001127845.1:n.102-6975A>G | |
| NM_012229.4:c.102-6975A>G | NP_036361.1:n.102-6975A>G | |
| XM_005269632.3:c.102-6975A>G | XP_005269689.1:n.102-6975A>G | |
| XM_005269633.3:c.102-6975A>G | XP_005269690.1:n.102-6975A>G | |
| XM_005269634.3:c.102-6975A>G | XP_005269691.1:n.102-6975A>G | |
| XM_005269635.3:c.102-6975A>G | XP_005269692.1:n.102-6975A>G | |
| XM_005269636.3:c.102-6975A>G | XP_005269693.1:n.102-6975A>G | |
| XM_005269637.3:c.14+6837A>G | XP_005269694.1:n.14+6837A>G | |
| XM_005269639.3:c.14+6837A>G | XP_005269696.1:n.14+6837A>G | |
| XM_005269640.3:c.-533-6975A>G | XP_005269697.1:n.-533-6975A>G | |
| XM_005269641.3:c.-533-6975A>G | XP_005269698.1:n.-533-6975A>G | |
| XM_005269642.3:c.-534+6837A>G | XP_005269699.1:n.-534+6837A>G | |
| XM_005269643.3:c.-399+28404A>G | XP_005269700.1:n.-399+28404A>G | |
| XM_005269644.3:c.-557-6975A>G | XP_005269701.1:n.-557-6975A>G | |
| XM_005269645.3:c.-557-6975A>G | XP_005269702.1:n.-557-6975A>G | |
| XM_005269646.3:c.-484+28404A>G | XP_005269703.1:n.-484+28404A>G | |
| XM_006717721.2:c.-460+28404A>G | XP_006717784.1:n.-460+28404A>G | |
| XM_006717722.2:c.-354-6975A>G | XP_006717785.1:n.-354-6975A>G | |
| XM_006717723.2:c.-354-6975A>G | XP_006717786.1:n.-354-6975A>G | |
| XM_006717724.2:c.-378-6975A>G | XP_006717787.1:n.-378-6975A>G | |
| XM_011539534.1:c.102-6975A>G | XP_011537836.1:n.102-6975A>G | |
| XM_011539537.1:c.102-6975A>G | XP_011537839.1:n.102-6975A>G | |
| NM_001351169.1:c.102-6975A>G | NP_001338098.1:n.102-6975A>G | |
| NM_001351170.1:c.102-6975A>G | NP_001338099.1:n.102-6975A>G | |
| NM_001351171.1:c.102-6975A>G | NP_001338100.1:n.102-6975A>G | |
| NM_001351172.1:c.102-6975A>G | NP_001338101.1:n.102-6975A>G | |
| NM_001351173.1:c.102-6975A>G | NP_001338102.1:n.102-6975A>G | |
| NM_001351174.1:c.14+6837A>G | NP_001338103.1:n.14+6837A>G | |
| NM_001351175.1:c.-116-6975A>G | NP_001338104.1:n.-116-6975A>G | |
| NM_001351176.1:c.-460+28404A>G | NP_001338105.1:n.-460+28404A>G | |
| NM_001351177.1:c.-533-6975A>G | NP_001338106.1:n.-533-6975A>G | |
| NM_001351178.1:c.-557-6975A>G | NP_001338107.1:n.-557-6975A>G | |
| NM_001351179.1:c.-725-6975A>G | NP_001338108.1:n.-725-6975A>G | |
| NM_001351180.1:c.-591+28404A>G | NP_001338109.1:n.-591+28404A>G | |
| NM_001351181.1:c.-307+28404A>G | NP_001338110.1:n.-307+28404A>G | |
| NM_001351182.1:c.-725-6975A>G | NP_001338111.1:n.-725-6975A>G | |
| NM_001351183.1:c.-399+28404A>G | NP_001338112.1:n.-399+28404A>G | |
| NM_001351184.1:c.-664-6975A>G | NP_001338113.1:n.-664-6975A>G | |
| NM_001351185.1:c.-685-6975A>G | NP_001338114.1:n.-685-6975A>G | |
| NM_001351186.1:c.-749-6975A>G | NP_001338115.1:n.-749-6975A>G | |
| NM_001351187.1:c.-770-6975A>G | NP_001338116.1:n.-770-6975A>G | |
| NM_001351188.1:c.-652+28404A>G | NP_001338117.1:n.-652+28404A>G | |
| NM_001351189.1:c.-664-6975A>G | NP_001338118.1:n.-664-6975A>G | |
| NM_001351190.1:c.-557-6975A>G | NP_001338119.1:n.-557-6975A>G | |
| NM_001351191.1:c.-442+6837A>G | NP_001338120.1:n.-442+6837A>G | |
| NM_001351192.1:c.-534+6837A>G | NP_001338121.1:n.-534+6837A>G | |
| NM_001351193.1:c.-558+6837A>G | NP_001338122.1:n.-558+6837A>G | |
| NM_001351194.1:c.-581+28404A>G | NP_001338123.1:n.-581+28404A>G | |
| NM_001351195.1:c.-715-6975A>G | NP_001338124.1:n.-715-6975A>G | |
| NM_001351196.1:c.-739-6975A>G | NP_001338125.1:n.-739-6975A>G | |
| NM_001351197.1:c.-533-6975A>G | NP_001338126.1:n.-533-6975A>G | |
| XM_005269637.5:c.14+6837A>G | XP_005269694.1:n.14+6837A>G | |
| XM_005269645.4:c.-557-6975A>G | XP_005269702.1:n.-557-6975A>G | |
| XM_005269646.4:c.-484+28404A>G | XP_005269703.1:n.-484+28404A>G | |
| XM_006717721.3:c.-460+28404A>G | XP_006717784.1:n.-460+28404A>G | |
| XM_006717723.3:c.-354-6975A>G | XP_006717786.1:n.-354-6975A>G | |
| XM_011539537.2:c.102-6975A>G | XP_011537839.1:n.102-6975A>G | |
| XM_017015966.1:c.-612+28404A>G | XP_016871455.1:n.-612+28404A>G | |
| XM_017015967.1:c.-546-6975A>G | XP_016871456.1:n.-546-6975A>G | |
| XM_017015974.1:c.-642+28404A>G | XP_016871463.1:n.-642+28404A>G | |
| XM_024447901.1:c.102-6975A>G | XP_024303669.1:n.102-6975A>G | |
| XM_024447902.1:c.102-6975A>G | XP_024303670.1:n.102-6975A>G | |
| XM_024447904.1:c.-664-6975A>G | XP_024303672.1:n.-664-6975A>G | |
| XM_024447905.1:c.-1346-6975A>G | XP_024303673.1:n.-1346-6975A>G | |
| XM_024447907.1:c.-2295-6975A>G | XP_024303675.1:n.-2295-6975A>G | |
| XM_024447908.1:c.-2356-6975A>G | XP_024303676.1:n.-2356-6975A>G | |
| XM_024447909.1:c.-581+28404A>G | XP_024303677.1:n.-581+28404A>G | |
| XM_024447910.1:c.-581+28404A>G | XP_024303678.1:n.-581+28404A>G | |
| XM_024447911.1:c.-2283+28404A>G | XP_024303679.1:n.-2283+28404A>G | |
| NM_001134373.3:c.102-6975A>G | NP_001127845.1:n.102-6975A>G | |
| NM_001351169.2:c.102-6975A>G MANE Select | NP_001338098.1:n.102-6975A>G | |
| NM_001351170.2:c.102-6975A>G | NP_001338099.1:n.102-6975A>G | |
| NM_001351171.2:c.102-6975A>G | NP_001338100.1:n.102-6975A>G | |
| NM_001351172.2:c.102-6975A>G | NP_001338101.1:n.102-6975A>G | |
| NM_001351173.2:c.102-6975A>G | NP_001338102.1:n.102-6975A>G | |
| NM_001351175.2:c.-116-6975A>G | NP_001338104.1:n.-116-6975A>G | |
| NM_001351176.2:c.-460+28404A>G | NP_001338105.1:n.-460+28404A>G | |
| NM_001351177.2:c.-533-6975A>G | NP_001338106.1:n.-533-6975A>G | |
| NM_001351178.2:c.-557-6975A>G | NP_001338107.1:n.-557-6975A>G | |
| NM_001351179.2:c.-725-6975A>G | NP_001338108.1:n.-725-6975A>G | |
| NM_001351180.2:c.-591+28404A>G | NP_001338109.1:n.-591+28404A>G | |
| NM_001351181.2:c.-307+28404A>G | NP_001338110.1:n.-307+28404A>G | |
| NM_001351182.2:c.-725-6975A>G | NP_001338111.1:n.-725-6975A>G | |
| NM_001351183.2:c.-399+28404A>G | NP_001338112.1:n.-399+28404A>G | |
| NM_001351184.2:c.-664-6975A>G | NP_001338113.1:n.-664-6975A>G | |
| NM_001351185.2:c.-685-6975A>G | NP_001338114.1:n.-685-6975A>G | |
| NM_001351186.2:c.-749-6975A>G | NP_001338115.1:n.-749-6975A>G | |
| NM_001351187.2:c.-770-6975A>G | NP_001338116.1:n.-770-6975A>G | |
| NM_001351188.2:c.-652+28404A>G | NP_001338117.1:n.-652+28404A>G | |
| NM_001351189.2:c.-664-6975A>G | NP_001338118.1:n.-664-6975A>G | |
| NM_001351190.2:c.-557-6975A>G | NP_001338119.1:n.-557-6975A>G | |
| NM_001351194.2:c.-581+28404A>G | NP_001338123.1:n.-581+28404A>G | |
| NM_001351195.2:c.-715-6975A>G | NP_001338124.1:n.-715-6975A>G | |
| NM_001351196.2:c.-739-6975A>G | NP_001338125.1:n.-739-6975A>G | |
| NM_001351197.2:c.-533-6975A>G | NP_001338126.1:n.-533-6975A>G | |
| NM_012229.5:c.102-6975A>G | NP_036361.1:n.102-6975A>G |