Linked Data
ClinVar Variation Id:
371693
dbSNP Id:
rs1057517464
gnomAD v2:
7-92134196-G-A
gnomAD v4:
7-92504882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504882G>A , CM000669.2:g.92504882G>A | GRCh38 |
| NC_000007.13:g.92134196G>A , CM000669.1:g.92134196G>A | GRCh37 |
| NC_000007.12:g.91972132G>A | NCBI36 |
| NG_008341.1:g.28650C>T | |
| NG_008341.2:g.28650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1921C>T MANE Select | ENSP00000248633.4:p.Gln641Ter | |
| ENST00000248633.8:c.1921C>T | ENSP00000248633.4:p.Gln641Ter | |
| ENST00000428214.5:c.1900+1366C>T | ENSP00000394413.1:n.1900+1366C>T | |
| ENST00000438045.5:c.955C>T | ENSP00000410438.1:p.Gln319Ter | |
| ENST00000484913.5:n.1960C>T | ||
| ENST00000496420.5:n.1597C>T | ||
| NM_000466.2:c.1921C>T | NP_000457.1:p.Gln641Ter | |
| NM_001282677.1:c.1900+1366C>T | NP_001269606.1:n.1900+1366C>T | |
| NM_001282678.1:c.1297C>T | NP_001269607.1:p.Gln433Ter | |
| XM_005250433.3:c.172C>T | XP_005250490.1:p.Gln58Ter | |
| XR_242246.3:n.2017C>T | ||
| XM_017012319.2:c.172C>T | XP_016867808.1:p.Gln58Ter | |
| XR_001744808.2:n.948C>T | ||
| XR_242246.5:n.1968C>T | ||
| NM_000466.3:c.1921C>T MANE Select | NP_000457.1:p.Gln641Ter | |
| NM_001282677.2:c.1900+1366C>T | NP_001269606.1:n.1900+1366C>T | |
| NM_001282678.2:c.1297C>T | NP_001269607.1:p.Gln433Ter |