Linked Data
ClinVar Variation Id:
100908
ClinVar RCV Id:
RCV000087272
dbSNP Id:
rs886037658
gnomAD v4:
10-103139405-C-T
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103139405C>T , CM000672.2:g.103139405C>T | GRCh38 |
| NC_000010.10:g.104899162C>T , CM000672.1:g.104899162C>T | GRCh37 |
| NC_000010.9:g.104889152C>T | NCBI36 |
| NG_042272.1:g.58902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369857.9:c.175+1G>A | ENSP00000501806.1:n.175+1G>A | |
| ENST00000404739.8:c.175+1G>A MANE Select | ENSP00000383960.3:n.175+1G>A | |
| ENST00000470299.2:c.102-27600G>A | ENSP00000474247.1:n.102-27600G>A | |
| ENST00000674696.1:c.175+1G>A | ENSP00000502679.1:n.175+1G>A | |
| ENST00000674728.1:c.175+1G>A | ENSP00000502126.1:n.175+1G>A | |
| ENST00000674860.1:c.175+1G>A | ENSP00000502816.1:n.175+1G>A | |
| ENST00000675020.1:c.102-32699G>A | ENSP00000501653.1:n.102-32699G>A | |
| ENST00000675040.1:c.175+1G>A | ENSP00000502090.1:n.175+1G>A | |
| ENST00000675164.1:c.175+1G>A | ENSP00000502128.1:n.175+1G>A | |
| ENST00000675326.1:c.175+1G>A | ENSP00000502205.1:n.175+1G>A | |
| ENST00000675436.1:c.175+1G>A | ENSP00000501565.1:n.175+1G>A | |
| ENST00000675645.1:c.175+1G>A | ENSP00000502663.1:n.175+1G>A | |
| ENST00000675811.1:c.175+1G>A | ENSP00000501901.1:n.175+1G>A | |
| ENST00000675985.1:c.88+1G>A | ENSP00000502215.1:n.88+1G>A | |
| ENST00000676428.1:c.175+1G>A | ENSP00000501689.1:n.175+1G>A | |
| ENST00000676449.1:c.175+1G>A | ENSP00000502801.1:n.175+1G>A | |
| ENST00000343289.9:c.175+1G>A | ENSP00000339479.5:n.175+1G>A | |
| ENST00000369857.8:n.111+1G>A | ||
| ENST00000404739.7:c.175+1G>A | ENSP00000383960.3:n.175+1G>A | |
| ENST00000452156.5:c.175+1G>A | ENSP00000396468.1:n.175+1G>A | |
| ENST00000461461.5:c.175+1G>A | ENSP00000474091.1:n.175+1G>A | |
| ENST00000470299.1:c.102-27600G>A | ENSP00000474247.1:n.102-27600G>A | |
| ENST00000487810.5:n.150+1G>A | ||
| NM_001134373.2:c.175+1G>A | NP_001127845.1:n.175+1G>A | |
| NM_012229.4:c.175+1G>A | NP_036361.1:n.175+1G>A | |
| XM_005269632.3:c.175+1G>A | XP_005269689.1:n.175+1G>A | |
| XM_005269633.3:c.175+1G>A | XP_005269690.1:n.175+1G>A | |
| XM_005269634.3:c.175+1G>A | XP_005269691.1:n.175+1G>A | |
| XM_005269635.3:c.175+1G>A | XP_005269692.1:n.175+1G>A | |
| XM_005269636.3:c.175+1G>A | XP_005269693.1:n.175+1G>A | |
| XM_005269637.3:c.88+1G>A | XP_005269694.1:n.88+1G>A | |
| XM_005269638.3:c.79+1G>A | XP_005269695.1:n.79+1G>A | |
| XM_005269639.3:c.88+1G>A | XP_005269696.1:n.88+1G>A | |
| XM_005269640.3:c.-460+1G>A | XP_005269697.1:n.-460+1G>A | |
| XM_005269641.3:c.-460+1G>A | XP_005269698.1:n.-460+1G>A | |
| XM_005269642.3:c.-460+1G>A | XP_005269699.1:n.-460+1G>A | |
| XM_005269643.3:c.-398-32699G>A | XP_005269700.1:n.-398-32699G>A | |
| XM_005269644.3:c.-484+1G>A | XP_005269701.1:n.-484+1G>A | |
| XM_005269645.3:c.-484+1G>A | XP_005269702.1:n.-484+1G>A | |
| XM_005269646.3:c.-483-27600G>A | XP_005269703.1:n.-483-27600G>A | |
| XM_006717721.2:c.-459-27600G>A | XP_006717784.1:n.-459-27600G>A | |
| XM_006717722.2:c.-281+1G>A | XP_006717785.1:n.-281+1G>A | |
| XM_006717723.2:c.-281+1G>A | XP_006717786.1:n.-281+1G>A | |
| XM_006717724.2:c.-305+1G>A | XP_006717787.1:n.-305+1G>A | |
| XM_011539534.1:c.175+1G>A | XP_011537836.1:n.175+1G>A | |
| XM_011539536.1:c.-43+1G>A | XP_011537838.1:n.-43+1G>A | |
| XM_011539537.1:c.175+1G>A | XP_011537839.1:n.175+1G>A | |
| NM_001351169.1:c.175+1G>A | NP_001338098.1:n.175+1G>A | |
| NM_001351170.1:c.175+1G>A | NP_001338099.1:n.175+1G>A | |
| NM_001351171.1:c.175+1G>A | NP_001338100.1:n.175+1G>A | |
| NM_001351172.1:c.175+1G>A | NP_001338101.1:n.175+1G>A | |
| NM_001351173.1:c.175+1G>A | NP_001338102.1:n.175+1G>A | |
| NM_001351174.1:c.88+1G>A | NP_001338103.1:n.88+1G>A | |
| NM_001351175.1:c.-43+1G>A | NP_001338104.1:n.-43+1G>A | |
| NM_001351176.1:c.-459-27600G>A | NP_001338105.1:n.-459-27600G>A | |
| NM_001351177.1:c.-460+1G>A | NP_001338106.1:n.-460+1G>A | |
| NM_001351178.1:c.-484+1G>A | NP_001338107.1:n.-484+1G>A | |
| NM_001351179.1:c.-652+1G>A | NP_001338108.1:n.-652+1G>A | |
| NM_001351180.1:c.-590-32699G>A | NP_001338109.1:n.-590-32699G>A | |
| NM_001351181.1:c.-306-32699G>A | NP_001338110.1:n.-306-32699G>A | |
| NM_001351182.1:c.-652+1G>A | NP_001338111.1:n.-652+1G>A | |
| NM_001351183.1:c.-398-32699G>A | NP_001338112.1:n.-398-32699G>A | |
| NM_001351184.1:c.-591+1G>A | NP_001338113.1:n.-591+1G>A | |
| NM_001351185.1:c.-612+1G>A | NP_001338114.1:n.-612+1G>A | |
| NM_001351186.1:c.-676+1G>A | NP_001338115.1:n.-676+1G>A | |
| NM_001351187.1:c.-697+1G>A | NP_001338116.1:n.-697+1G>A | |
| NM_001351188.1:c.-651-27600G>A | NP_001338117.1:n.-651-27600G>A | |
| NM_001351189.1:c.-591+1G>A | NP_001338118.1:n.-591+1G>A | |
| NM_001351190.1:c.-484+1G>A | NP_001338119.1:n.-484+1G>A | |
| NM_001351191.1:c.-368+1G>A | NP_001338120.1:n.-368+1G>A | |
| NM_001351192.1:c.-460+1G>A | NP_001338121.1:n.-460+1G>A | |
| NM_001351193.1:c.-484+1G>A | NP_001338122.1:n.-484+1G>A | |
| NM_001351194.1:c.-580-32699G>A | NP_001338123.1:n.-580-32699G>A | |
| NM_001351195.1:c.-642+1G>A | NP_001338124.1:n.-642+1G>A | |
| NM_001351196.1:c.-666+1G>A | NP_001338125.1:n.-666+1G>A | |
| NM_001351197.1:c.-460+1G>A | NP_001338126.1:n.-460+1G>A | |
| XM_005269637.5:c.88+1G>A | XP_005269694.1:n.88+1G>A | |
| XM_005269645.4:c.-484+1G>A | XP_005269702.1:n.-484+1G>A | |
| XM_005269646.4:c.-483-27600G>A | XP_005269703.1:n.-483-27600G>A | |
| XM_006717721.3:c.-459-27600G>A | XP_006717784.1:n.-459-27600G>A | |
| XM_006717723.3:c.-281+1G>A | XP_006717786.1:n.-281+1G>A | |
| XM_011539537.2:c.175+1G>A | XP_011537839.1:n.175+1G>A | |
| XM_017015966.1:c.-611-32699G>A | XP_016871455.1:n.-611-32699G>A | |
| XM_017015967.1:c.-473+1G>A | XP_016871456.1:n.-473+1G>A | |
| XM_017015974.1:c.-641-27600G>A | XP_016871463.1:n.-641-27600G>A | |
| XM_024447901.1:c.175+1G>A | XP_024303669.1:n.175+1G>A | |
| XM_024447902.1:c.175+1G>A | XP_024303670.1:n.175+1G>A | |
| XM_024447904.1:c.-591+1G>A | XP_024303672.1:n.-591+1G>A | |
| XM_024447905.1:c.-1273+1G>A | XP_024303673.1:n.-1273+1G>A | |
| XM_024447907.1:c.-2222+1G>A | XP_024303675.1:n.-2222+1G>A | |
| XM_024447908.1:c.-2283+1G>A | XP_024303676.1:n.-2283+1G>A | |
| XM_024447909.1:c.-580-32699G>A | XP_024303677.1:n.-580-32699G>A | |
| XM_024447910.1:c.-580-32699G>A | XP_024303678.1:n.-580-32699G>A | |
| XM_024447911.1:c.-2282-27600G>A | XP_024303679.1:n.-2282-27600G>A | |
| NM_001134373.3:c.175+1G>A | NP_001127845.1:n.175+1G>A | |
| NM_001351169.2:c.175+1G>A MANE Select | NP_001338098.1:n.175+1G>A | |
| NM_001351170.2:c.175+1G>A | NP_001338099.1:n.175+1G>A | |
| NM_001351171.2:c.175+1G>A | NP_001338100.1:n.175+1G>A | |
| NM_001351172.2:c.175+1G>A | NP_001338101.1:n.175+1G>A | |
| NM_001351173.2:c.175+1G>A | NP_001338102.1:n.175+1G>A | |
| NM_001351175.2:c.-43+1G>A | NP_001338104.1:n.-43+1G>A | |
| NM_001351176.2:c.-459-27600G>A | NP_001338105.1:n.-459-27600G>A | |
| NM_001351177.2:c.-460+1G>A | NP_001338106.1:n.-460+1G>A | |
| NM_001351178.2:c.-484+1G>A | NP_001338107.1:n.-484+1G>A | |
| NM_001351179.2:c.-652+1G>A | NP_001338108.1:n.-652+1G>A | |
| NM_001351180.2:c.-590-32699G>A | NP_001338109.1:n.-590-32699G>A | |
| NM_001351181.2:c.-306-32699G>A | NP_001338110.1:n.-306-32699G>A | |
| NM_001351182.2:c.-652+1G>A | NP_001338111.1:n.-652+1G>A | |
| NM_001351183.2:c.-398-32699G>A | NP_001338112.1:n.-398-32699G>A | |
| NM_001351184.2:c.-591+1G>A | NP_001338113.1:n.-591+1G>A | |
| NM_001351185.2:c.-612+1G>A | NP_001338114.1:n.-612+1G>A | |
| NM_001351186.2:c.-676+1G>A | NP_001338115.1:n.-676+1G>A | |
| NM_001351187.2:c.-697+1G>A | NP_001338116.1:n.-697+1G>A | |
| NM_001351188.2:c.-651-27600G>A | NP_001338117.1:n.-651-27600G>A | |
| NM_001351189.2:c.-591+1G>A | NP_001338118.1:n.-591+1G>A | |
| NM_001351190.2:c.-484+1G>A | NP_001338119.1:n.-484+1G>A | |
| NM_001351194.2:c.-580-32699G>A | NP_001338123.1:n.-580-32699G>A | |
| NM_001351195.2:c.-642+1G>A | NP_001338124.1:n.-642+1G>A | |
| NM_001351196.2:c.-666+1G>A | NP_001338125.1:n.-666+1G>A | |
| NM_001351197.2:c.-460+1G>A | NP_001338126.1:n.-460+1G>A | |
| NM_012229.5:c.175+1G>A | NP_036361.1:n.175+1G>A |