Linked Data
ClinVar Variation Id:
100906
ClinVar RCV Id:
RCV000087270
dbSNP Id:
rs886037657
gnomAD v4:
10-103093310-C-A
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103093310C>A , CM000672.2:g.103093310C>A | GRCh38 |
| NC_000010.10:g.104853067C>A , CM000672.1:g.104853067C>A | GRCh37 |
| NC_000010.9:g.104843057C>A | NCBI36 |
| NG_042272.1:g.104997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369857.9:c.*644-1G>T | ENSP00000501806.1:n.*644-1G>T | |
| ENST00000404739.8:c.989-1G>T MANE Select | ENSP00000383960.3:n.989-1G>T | |
| ENST00000470299.2:c.*841-1G>T | ENSP00000474247.1:n.*841-1G>T | |
| ENST00000674696.1:c.989-1G>T | ENSP00000502679.1:n.989-1G>T | |
| ENST00000674728.1:c.*2469-1G>T | ENSP00000502126.1:n.*2469-1G>T | |
| ENST00000674860.1:c.1013-1G>T | ENSP00000502816.1:n.1013-1G>T | |
| ENST00000675020.1:c.*833-1G>T | ENSP00000501653.1:n.*833-1G>T | |
| ENST00000675040.1:c.*512-1G>T | ENSP00000502090.1:n.*512-1G>T | |
| ENST00000675164.1:c.*861-1G>T | ENSP00000502128.1:n.*861-1G>T | |
| ENST00000675326.1:c.989-1G>T | ENSP00000502205.1:n.989-1G>T | |
| ENST00000675436.1:c.*927-1G>T | ENSP00000501565.1:n.*927-1G>T | |
| ENST00000675645.1:c.989-1G>T | ENSP00000502663.1:n.989-1G>T | |
| ENST00000675811.1:c.*926-1G>T | ENSP00000501901.1:n.*926-1G>T | |
| ENST00000675985.1:c.902-1G>T | ENSP00000502215.1:n.902-1G>T | |
| ENST00000676428.1:c.989-1G>T | ENSP00000501689.1:n.989-1G>T | |
| ENST00000676449.1:c.989-1G>T | ENSP00000502801.1:n.989-1G>T | |
| ENST00000343289.9:c.989-1G>T | ENSP00000339479.5:n.989-1G>T | |
| ENST00000369857.8:n.1173-1G>T | ||
| ENST00000404739.7:c.989-1G>T | ENSP00000383960.3:n.989-1G>T | |
| ENST00000421281.1:c.89-1G>T | ENSP00000408112.1:n.89-1G>T | |
| NM_001134373.2:c.989-1G>T | NP_001127845.1:n.989-1G>T | |
| NM_012229.4:c.989-1G>T | NP_036361.1:n.989-1G>T | |
| XM_005269632.3:c.1013-1G>T | XP_005269689.1:n.1013-1G>T | |
| XM_005269633.3:c.1013-1G>T | XP_005269690.1:n.1013-1G>T | |
| XM_005269634.3:c.1013-1G>T | XP_005269691.1:n.1013-1G>T | |
| XM_005269635.3:c.1013-1G>T | XP_005269692.1:n.1013-1G>T | |
| XM_005269636.3:c.989-1G>T | XP_005269693.1:n.989-1G>T | |
| XM_005269637.3:c.926-1G>T | XP_005269694.1:n.926-1G>T | |
| XM_005269638.3:c.917-1G>T | XP_005269695.1:n.917-1G>T | |
| XM_005269639.3:c.902-1G>T | XP_005269696.1:n.902-1G>T | |
| XM_005269640.3:c.416-1G>T | XP_005269697.1:n.416-1G>T | |
| XM_005269641.3:c.416-1G>T | XP_005269698.1:n.416-1G>T | |
| XM_005269642.3:c.416-1G>T | XP_005269699.1:n.416-1G>T | |
| XM_005269643.3:c.416-1G>T | XP_005269700.1:n.416-1G>T | |
| XM_005269644.3:c.416-1G>T | XP_005269701.1:n.416-1G>T | |
| XM_005269645.3:c.416-1G>T | XP_005269702.1:n.416-1G>T | |
| XM_005269646.3:c.416-1G>T | XP_005269703.1:n.416-1G>T | |
| XM_006717721.2:c.416-1G>T | XP_006717784.1:n.416-1G>T | |
| XM_006717722.2:c.416-1G>T | XP_006717785.1:n.416-1G>T | |
| XM_006717723.2:c.416-1G>T | XP_006717786.1:n.416-1G>T | |
| XM_006717724.2:c.416-1G>T | XP_006717787.1:n.416-1G>T | |
| XM_011539534.1:c.1013-1G>T | XP_011537836.1:n.1013-1G>T | |
| XM_011539535.1:c.905-1G>T | XP_011537837.1:n.905-1G>T | |
| XM_011539536.1:c.920-1G>T | XP_011537838.1:n.920-1G>T | |
| XM_011539537.1:c.1012+662G>T | XP_011537839.1:n.1012+662G>T | |
| NM_001351169.1:c.989-1G>T | NP_001338098.1:n.989-1G>T | |
| NM_001351170.1:c.1013-1G>T | NP_001338099.1:n.1013-1G>T | |
| NM_001351171.1:c.1013-1G>T | NP_001338100.1:n.1013-1G>T | |
| NM_001351172.1:c.1013-1G>T | NP_001338101.1:n.1013-1G>T | |
| NM_001351173.1:c.1013-1G>T | NP_001338102.1:n.1013-1G>T | |
| NM_001351174.1:c.902-1G>T | NP_001338103.1:n.902-1G>T | |
| NM_001351175.1:c.896-1G>T | NP_001338104.1:n.896-1G>T | |
| NM_001351176.1:c.416-1G>T | NP_001338105.1:n.416-1G>T | |
| NM_001351177.1:c.416-1G>T | NP_001338106.1:n.416-1G>T | |
| NM_001351178.1:c.416-1G>T | NP_001338107.1:n.416-1G>T | |
| NM_001351179.1:c.416-1G>T | NP_001338108.1:n.416-1G>T | |
| NM_001351180.1:c.416-1G>T | NP_001338109.1:n.416-1G>T | |
| NM_001351181.1:c.416-1G>T | NP_001338110.1:n.416-1G>T | |
| NM_001351182.1:c.416-1G>T | NP_001338111.1:n.416-1G>T | |
| NM_001351183.1:c.416-1G>T | NP_001338112.1:n.416-1G>T | |
| NM_001351184.1:c.416-1G>T | NP_001338113.1:n.416-1G>T | |
| NM_001351185.1:c.416-1G>T | NP_001338114.1:n.416-1G>T | |
| NM_001351186.1:c.416-1G>T | NP_001338115.1:n.416-1G>T | |
| NM_001351187.1:c.416-1G>T | NP_001338116.1:n.416-1G>T | |
| NM_001351188.1:c.416-1G>T | NP_001338117.1:n.416-1G>T | |
| NM_001351189.1:c.416-1G>T | NP_001338118.1:n.416-1G>T | |
| NM_001351190.1:c.416-1G>T | NP_001338119.1:n.416-1G>T | |
| NM_001351191.1:c.416-1G>T | NP_001338120.1:n.416-1G>T | |
| NM_001351192.1:c.416-1G>T | NP_001338121.1:n.416-1G>T | |
| NM_001351193.1:c.416-1G>T | NP_001338122.1:n.416-1G>T | |
| NM_001351194.1:c.275-1G>T | NP_001338123.1:n.275-1G>T | |
| NM_001351195.1:c.275-1G>T | NP_001338124.1:n.275-1G>T | |
| NM_001351196.1:c.275-1G>T | NP_001338125.1:n.275-1G>T | |
| NM_001351197.1:c.416-1G>T | NP_001338126.1:n.416-1G>T | |
| XM_005269637.5:c.926-1G>T | XP_005269694.1:n.926-1G>T | |
| XM_005269645.4:c.416-1G>T | XP_005269702.1:n.416-1G>T | |
| XM_005269646.4:c.416-1G>T | XP_005269703.1:n.416-1G>T | |
| XM_006717721.3:c.416-1G>T | XP_006717784.1:n.416-1G>T | |
| XM_006717723.3:c.416-1G>T | XP_006717786.1:n.416-1G>T | |
| XM_011539537.2:c.1012+662G>T | XP_011537839.1:n.1012+662G>T | |
| XM_017015947.2:c.920-1G>T | XP_016871436.1:n.920-1G>T | |
| XM_017015966.1:c.416-1G>T | XP_016871455.1:n.416-1G>T | |
| XM_017015967.1:c.416-1G>T | XP_016871456.1:n.416-1G>T | |
| XM_017015974.1:c.275-1G>T | XP_016871463.1:n.275-1G>T | |
| XM_024447901.1:c.1013-1G>T | XP_024303669.1:n.1013-1G>T | |
| XM_024447902.1:c.989-1G>T | XP_024303670.1:n.989-1G>T | |
| XM_024447903.1:c.881-1G>T | XP_024303671.1:n.881-1G>T | |
| XM_024447904.1:c.416-1G>T | XP_024303672.1:n.416-1G>T | |
| XM_024447905.1:c.341-1G>T | XP_024303673.1:n.341-1G>T | |
| XM_024447907.1:c.341-1G>T | XP_024303675.1:n.341-1G>T | |
| XM_024447908.1:c.341-1G>T | XP_024303676.1:n.341-1G>T | |
| XM_024447909.1:c.275-1G>T | XP_024303677.1:n.275-1G>T | |
| XM_024447910.1:c.275-1G>T | XP_024303678.1:n.275-1G>T | |
| XM_024447911.1:c.341-1G>T | XP_024303679.1:n.341-1G>T | |
| NM_001134373.3:c.989-1G>T | NP_001127845.1:n.989-1G>T | |
| NM_001351169.2:c.989-1G>T MANE Select | NP_001338098.1:n.989-1G>T | |
| NM_001351170.2:c.1013-1G>T | NP_001338099.1:n.1013-1G>T | |
| NM_001351171.2:c.1013-1G>T | NP_001338100.1:n.1013-1G>T | |
| NM_001351172.2:c.1013-1G>T | NP_001338101.1:n.1013-1G>T | |
| NM_001351173.2:c.1013-1G>T | NP_001338102.1:n.1013-1G>T | |
| NM_001351175.2:c.896-1G>T | NP_001338104.1:n.896-1G>T | |
| NM_001351176.2:c.416-1G>T | NP_001338105.1:n.416-1G>T | |
| NM_001351177.2:c.416-1G>T | NP_001338106.1:n.416-1G>T | |
| NM_001351178.2:c.416-1G>T | NP_001338107.1:n.416-1G>T | |
| NM_001351179.2:c.416-1G>T | NP_001338108.1:n.416-1G>T | |
| NM_001351180.2:c.416-1G>T | NP_001338109.1:n.416-1G>T | |
| NM_001351181.2:c.416-1G>T | NP_001338110.1:n.416-1G>T | |
| NM_001351182.2:c.416-1G>T | NP_001338111.1:n.416-1G>T | |
| NM_001351183.2:c.416-1G>T | NP_001338112.1:n.416-1G>T | |
| NM_001351184.2:c.416-1G>T | NP_001338113.1:n.416-1G>T | |
| NM_001351185.2:c.416-1G>T | NP_001338114.1:n.416-1G>T | |
| NM_001351186.2:c.416-1G>T | NP_001338115.1:n.416-1G>T | |
| NM_001351187.2:c.416-1G>T | NP_001338116.1:n.416-1G>T | |
| NM_001351188.2:c.416-1G>T | NP_001338117.1:n.416-1G>T | |
| NM_001351189.2:c.416-1G>T | NP_001338118.1:n.416-1G>T | |
| NM_001351190.2:c.416-1G>T | NP_001338119.1:n.416-1G>T | |
| NM_001351194.2:c.275-1G>T | NP_001338123.1:n.275-1G>T | |
| NM_001351195.2:c.275-1G>T | NP_001338124.1:n.275-1G>T | |
| NM_001351196.2:c.275-1G>T | NP_001338125.1:n.275-1G>T | |
| NM_001351197.2:c.416-1G>T | NP_001338126.1:n.416-1G>T | |
| NM_012229.5:c.989-1G>T | NP_036361.1:n.989-1G>T |