Linked Data
dbSNP Id:
rs767253913
ExAC:
12:58157552 G / T
gnomAD v2:
12-58157552-G-T
gnomAD v3:
12-57763769-G-T
gnomAD v4:
12-57763769-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763769G>T , CM000674.2:g.57763769G>T | GRCh38 |
| NC_000012.11:g.58157552G>T , CM000674.1:g.58157552G>T | GRCh37 |
| NC_000012.10:g.56443819G>T | NCBI36 |
| NG_007076.1:g.8425C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1336C>A | ENSP00000518840.1:p.Pro446Thr | |
| ENST00000713545.1:c.*260C>A | ENSP00000518841.1:n.*260C>A | |
| ENST00000228606.9:c.1255C>A MANE Select | ENSP00000228606.4:p.Pro419Thr | |
| ENST00000228606.8:c.1255C>A | ENSP00000228606.4:p.Pro419Thr | |
| ENST00000547344.5:n.1394C>A | ||
| NM_000785.3:c.1255C>A | NP_000776.1:p.Pro419Thr | |
| NM_000785.4:c.1255C>A MANE Select | NP_000776.1:p.Pro419Thr |