Linked Data
ClinVar Variation Id:
1422035
ClinVar RCV Id:
RCV001919330
dbSNP Id:
rs1792222710
gnomAD v3:
7-92507002-C-A
gnomAD v4:
7-92507002-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92507002C>A , CM000669.2:g.92507002C>A | GRCh38 |
| NC_000007.13:g.92136316C>A , CM000669.1:g.92136316C>A | GRCh37 |
| NC_000007.12:g.91974252C>A | NCBI36 |
| NG_008341.1:g.26530G>T | |
| NG_008341.2:g.26530G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1795G>T MANE Select | ENSP00000248633.4:p.Gly599Ter | |
| ENST00000248633.8:c.1795G>T | ENSP00000248633.4:p.Gly599Ter | |
| ENST00000422866.1:c.613G>T | ||
| ENST00000428214.5:c.1795G>T | ENSP00000394413.1:p.Gly599Ter | |
| ENST00000438045.5:c.829G>T | ENSP00000410438.1:p.Gly277Ter | |
| ENST00000484913.5:n.1834G>T | ||
| ENST00000496420.5:n.822G>T | ||
| NM_000466.2:c.1795G>T | NP_000457.1:p.Gly599Ter | |
| NM_001282677.1:c.1795G>T | NP_001269606.1:p.Gly599Ter | |
| NM_001282678.1:c.1171G>T | NP_001269607.1:p.Gly391Ter | |
| XM_005250433.3:c.46G>T | XP_005250490.1:p.Gly16Ter | |
| XR_242246.3:n.1891G>T | ||
| XM_017012319.2:c.46G>T | XP_016867808.1:p.Gly16Ter | |
| XR_001744808.2:n.822G>T | ||
| XR_242246.5:n.1842G>T | ||
| NM_000466.3:c.1795G>T MANE Select | NP_000457.1:p.Gly599Ter | |
| NM_001282677.2:c.1795G>T | NP_001269606.1:p.Gly599Ter | |
| NM_001282678.2:c.1171G>T | NP_001269607.1:p.Gly391Ter |