Linked Data
ClinVar Variation Id:
1678803
ClinVar RCV Id:
RCV002226117
dbSNP Id:
rs767030770
ExAC:
2:121736098 C / T
gnomAD v2:
2-121736098-C-T
gnomAD v4:
2-120978522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978522C>T , CM000664.2:g.120978522C>T | GRCh38 |
| NC_000002.11:g.121736098C>T , CM000664.1:g.121736098C>T | GRCh37 |
| NC_000002.10:g.121452568C>T | NCBI36 |
| NG_009030.1:g.186232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1406C>T MANE Select | ENSP00000354586.5:p.Ala469Val | |
| ENST00000452319.6:c.1457C>T | ENSP00000390436.1:p.Ala486Val | |
| ENST00000314490.15:c.470C>T | ENSP00000312694.12:p.Ala157Val | |
| ENST00000341310.10:c.*505C>T | ENSP00000344473.6:n.*505C>T | |
| ENST00000361492.8:c.1457C>T | ENSP00000354586.4:p.Ala486Val | |
| ENST00000435313.6:n.1431C>T | ||
| ENST00000437950.5:c.*556C>T | ENSP00000415773.1:n.*556C>T | |
| ENST00000438299.5:c.*556C>T | ENSP00000400593.1:n.*556C>T | |
| ENST00000445186.5:c.*556C>T | ENSP00000397488.1:n.*556C>T | |
| ENST00000452319.5:c.1457C>T | ENSP00000390436.1:p.Ala486Val | |
| ENST00000452692.5:c.*505C>T | ENSP00000403715.1:n.*505C>T | |
| NM_005270.4:c.1457C>T | NP_005261.2:p.Ala486Val | |
| XM_006712422.1:c.1406C>T | XP_006712485.1:p.Ala469Val | |
| XM_011510969.1:c.1439C>T | XP_011509271.1:p.Ala480Val | |
| XM_011510970.1:c.1316C>T | XP_011509272.1:p.Ala439Val | |
| XM_011510971.1:c.1262C>T | XP_011509273.1:p.Ala421Val | |
| XM_011510972.1:c.1262C>T | XP_011509274.1:p.Ala421Val | |
| XM_011510973.1:c.1082C>T | XP_011509275.1:p.Ala361Val | |
| XM_011510974.1:c.1031C>T | XP_011509276.1:p.Ala344Val | |
| XM_006712422.3:c.1406C>T | XP_006712485.1:p.Ala469Val | |
| XM_011510969.2:c.1709C>T | XP_011509271.2:p.Ala570Val | |
| XM_011510970.2:c.1316C>T | XP_011509272.1:p.Ala439Val | |
| XM_011510971.2:c.1262C>T | XP_011509273.1:p.Ala421Val | |
| XM_011510972.2:c.1358C>T | XP_011509274.2:p.Ala453Val | |
| XM_011510973.2:c.1082C>T | XP_011509275.1:p.Ala361Val | |
| XM_011510974.2:c.1031C>T | XP_011509276.1:p.Ala344Val | |
| XM_017003818.1:c.1658C>T | XP_016859307.1:p.Ala553Val | |
| XM_024452794.1:c.1457C>T | XP_024308562.1:p.Ala486Val | |
| XM_024452795.1:c.1457C>T | XP_024308563.1:p.Ala486Val | |
| NM_001371271.1:c.1457C>T | NP_001358200.1:p.Ala486Val | |
| NM_001374353.1:c.1406C>T MANE Select | NP_001361282.1:p.Ala469Val | |
| NM_001374354.1:c.1031C>T | NP_001361283.1:p.Ala344Val | |
| NM_005270.5:c.1457C>T | NP_005261.2:p.Ala486Val |