Linked Data
dbSNP Id:
rs767709344
ExAC:
10:50701224 G / T
gnomAD v2:
10-50701224-G-T
gnomAD v3:
10-49493178-G-T
gnomAD v4:
10-49493178-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493178G>T , CM000672.2:g.49493178G>T | GRCh38 |
| NC_000010.10:g.50701224G>T , CM000672.1:g.50701224G>T | GRCh37 |
| NC_000010.9:g.50371230G>T | NCBI36 |
| NG_009442.1:g.50924C>A , LRG_465:g.50924C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1760C>A MANE Select | ENSP00000348089.5:p.Thr587Lys | |
| ENST00000681632.1:n.1838C>A | ||
| ENST00000681659.1:c.1601C>A | ENSP00000505631.1:p.Thr534Lys | |
| ENST00000355832.9:c.1760C>A | ENSP00000348089.5:p.Thr587Lys | |
| ENST00000475116.1:n.275+7360C>A | ||
| ENST00000623073.3:c.161C>A | ENSP00000485650.1:p.Thr54Lys | |
| ENST00000623115.3:c.-70+7360C>A | ENSP00000485321.1:n.-70+7360C>A | |
| ENST00000623318.1:c.161C>A | ENSP00000485423.1:p.Thr54Lys | |
| NM_000124.3:c.1760C>A | NP_000115.1:p.Thr587Lys | |
| NM_001346440.1:c.1760C>A | NP_001333369.1:p.Thr587Lys | |
| NM_000124.4:c.1760C>A MANE Select | NP_000115.1:p.Thr587Lys | |
| NM_001346440.2:c.1760C>A | NP_001333369.1:p.Thr587Lys |