Linked Data
dbSNP Id:
rs751506204
ExAC:
7:92146931 C / T
gnomAD v2:
7-92146931-C-T
gnomAD v3:
7-92517617-C-T
gnomAD v4:
7-92517617-C-T
COSMIC:
COSM5062671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517617C>T , CM000669.2:g.92517617C>T | GRCh38 |
| NC_000007.13:g.92146931C>T , CM000669.1:g.92146931C>T | GRCh37 |
| NC_000007.12:g.91984867C>T | NCBI36 |
| NG_008341.1:g.15915G>A | |
| NG_008341.2:g.15915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.898G>A MANE Select | ENSP00000248633.4:p.Ala300Thr | |
| ENST00000248633.8:c.898G>A | ENSP00000248633.4:p.Ala300Thr | |
| ENST00000428214.5:c.898G>A | ENSP00000394413.1:p.Ala300Thr | |
| ENST00000438045.5:c.274-3650G>A | ENSP00000410438.1:n.274-3650G>A | |
| ENST00000484913.5:n.937G>A | ||
| NM_000466.2:c.898G>A | NP_000457.1:p.Ala300Thr | |
| NM_001282677.1:c.898G>A | NP_001269606.1:p.Ala300Thr | |
| NM_001282678.1:c.274G>A | NP_001269607.1:p.Ala92Thr | |
| XR_242246.3:n.994G>A | ||
| XM_017012319.2:c.-769G>A | XP_016867808.1:n.-769G>A | |
| XR_001744808.2:n.8G>A | ||
| XR_242246.5:n.945G>A | ||
| NM_000466.3:c.898G>A MANE Select | NP_000457.1:p.Ala300Thr | |
| NM_001282677.2:c.898G>A | NP_001269606.1:p.Ala300Thr | |
| NM_001282678.2:c.274G>A | NP_001269607.1:p.Ala92Thr |