Linked Data
dbSNP Id:
rs779516199
ExAC:
7:87179292 G / T
gnomAD v2:
7-87179292-G-T
gnomAD v4:
7-87549976-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87549976G>T , CM000669.2:g.87549976G>T | GRCh38 |
| NC_000007.13:g.87179292G>T , CM000669.1:g.87179292G>T | GRCh37 |
| NC_000007.12:g.87017228G>T | NCBI36 |
| NG_011513.1:g.168273C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1429C>A | ENSP00000265724.3:p.Pro477Thr | |
| ENST00000622132.5:c.1429C>A MANE Select | ENSP00000478255.1:p.Pro477Thr | |
| ENST00000265724.7:c.1429C>A | ENSP00000265724.3:p.Pro477Thr | |
| ENST00000482527.1:n.183C>A | ||
| ENST00000543898.5:c.1237C>A | ENSP00000444095.1:p.Pro413Thr | |
| ENST00000622132.4:c.1429C>A | ENSP00000478255.1:p.Pro477Thr | |
| NM_000927.4:c.1429C>A | NP_000918.2:p.Pro477Thr | |
| NM_001348944.1:c.1429C>A | NP_001335873.1:p.Pro477Thr | |
| NM_001348945.1:c.1639C>A | NP_001335874.1:p.Pro547Thr | |
| NM_001348946.1:c.1429C>A | NP_001335875.1:p.Pro477Thr | |
| NM_001348946.2:c.1429C>A MANE Select | NP_001335875.1:p.Pro477Thr | |
| NM_000927.5:c.1429C>A | NP_000918.2:p.Pro477Thr | |
| NM_001348944.2:c.1429C>A | NP_001335873.1:p.Pro477Thr | |
| NM_001348945.2:c.1639C>A | NP_001335874.1:p.Pro547Thr |