Linked Data
dbSNP Id:
rs780449767
ExAC:
7:99358444 G / A
gnomAD v2:
7-99358444-G-A
gnomAD v4:
7-99760821-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760821G>A , CM000669.2:g.99760821G>A | GRCh38 |
| NC_000007.13:g.99358444G>A , CM000669.1:g.99358444G>A | GRCh37 |
| NC_000007.12:g.99196380G>A | NCBI36 |
| NG_008421.1:g.28365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1507C>T | ENSP00000337915.3:p.Gln503Ter | |
| ENST00000651162.1:n.849C>T | ||
| ENST00000651514.1:c.1414C>T MANE Select | ENSP00000498939.1:p.Gln472Ter | |
| ENST00000651783.1:c.955C>T | ENSP00000498924.1:p.Gln319Ter | |
| ENST00000652018.1:c.1267C>T | ENSP00000498733.1:p.Gln423Ter | |
| ENST00000336411.6:c.1414C>T | ENSP00000337915.2:p.Gln472Ter | |
| ENST00000354593.6:c.964C>T | ENSP00000346607.2:p.Gln322Ter | |
| NM_001202855.2:c.1411C>T | NP_001189784.1:p.Gln471Ter | |
| NM_017460.5:c.1414C>T | NP_059488.2:p.Gln472Ter | |
| XM_011515841.1:c.1507C>T | XP_011514143.1:p.Gln503Ter | |
| XM_011515842.1:c.1504C>T | XP_011514144.1:p.Gln502Ter | |
| NM_017460.6:c.1414C>T MANE Select | NP_059488.2:p.Gln472Ter | |
| NM_001202855.3:c.1411C>T | NP_001189784.1:p.Gln471Ter |