Linked Data
dbSNP Id:
rs200563724
gnomAD v2:
7-92146775-C-T
gnomAD v3:
7-92517461-C-T
gnomAD v4:
7-92517461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517461C>T , CM000669.2:g.92517461C>T | GRCh38 |
| NC_000007.13:g.92146775C>T , CM000669.1:g.92146775C>T | GRCh37 |
| NC_000007.12:g.91984711C>T | NCBI36 |
| NG_008341.1:g.16071G>A | |
| NG_008341.2:g.16071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1054G>A MANE Select | ENSP00000248633.4:p.Val352Met | |
| ENST00000248633.8:c.1054G>A | ENSP00000248633.4:p.Val352Met | |
| ENST00000428214.5:c.1054G>A | ENSP00000394413.1:p.Val352Met | |
| ENST00000438045.5:c.274-3494G>A | ENSP00000410438.1:n.274-3494G>A | |
| ENST00000484913.5:n.1093G>A | ||
| NM_000466.2:c.1054G>A | NP_000457.1:p.Val352Met | |
| NM_001282677.1:c.1054G>A | NP_001269606.1:p.Val352Met | |
| NM_001282678.1:c.430G>A | NP_001269607.1:p.Val144Met | |
| XR_242246.3:n.1150G>A | ||
| XM_017012319.2:c.-613G>A | XP_016867808.1:n.-613G>A | |
| XR_001744808.2:n.164G>A | ||
| XR_242246.5:n.1101G>A | ||
| NM_000466.3:c.1054G>A MANE Select | NP_000457.1:p.Val352Met | |
| NM_001282677.2:c.1054G>A | NP_001269606.1:p.Val352Met | |
| NM_001282678.2:c.430G>A | NP_001269607.1:p.Val144Met |