Linked Data
ClinVar Variation Id:
14357
dbSNP Id:
rs41341748
ExAC:
8:16012594 G / A
gnomAD v2:
8-16012594-G-A
gnomAD v3:
8-16155085-G-A
gnomAD v4:
8-16155085-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16155085G>A , CM000670.2:g.16155085G>A | GRCh38 |
| NC_000008.10:g.16012594G>A , CM000670.1:g.16012594G>A | GRCh37 |
| NC_000008.9:g.16056965G>A | NCBI36 |
| NG_012102.1:g.42707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262101.10:c.877C>T MANE Select | ENSP00000262101.5:p.Arg293Ter | |
| ENST00000262101.9:c.877C>T | ENSP00000262101.5:p.Arg293Ter | |
| ENST00000350896.3:c.877C>T | ENSP00000262100.3:p.Arg293Ter | |
| ENST00000355282.6:c.877C>T | ENSP00000347430.2:p.Arg293Ter | |
| ENST00000381998.8:c.877C>T | ENSP00000371428.4:p.Arg293Ter | |
| ENST00000445506.6:c.931C>T | ENSP00000405453.2:p.Arg311Ter | |
| ENST00000519060.6:c.*236C>T | ENSP00000428865.1:n.*236C>T | |
| ENST00000522672.5:c.247C>T | ENSP00000430536.1:p.Arg83Ter | |
| NM_002445.3:c.877C>T | NP_002436.1:p.Arg293Ter | |
| NM_138715.2:c.877C>T | NP_619729.1:p.Arg293Ter | |
| NM_138716.2:c.877C>T | NP_619730.1:p.Arg293Ter | |
| NM_001363744.1:c.931C>T | NP_001350673.1:p.Arg311Ter | |
| XM_024447161.1:c.931C>T | XP_024302929.1:p.Arg311Ter | |
| NM_138715.3:c.877C>T MANE Select | NP_619729.1:p.Arg293Ter | |
| NM_002445.4:c.877C>T | NP_002436.1:p.Arg293Ter | |
| NM_138716.3:c.877C>T | NP_619730.1:p.Arg293Ter |