Linked Data
dbSNP Id:
rs536764601
ExAC:
2:233388540 G / T
gnomAD v2:
2-233388540-G-T
gnomAD v3:
2-232523830-G-T
gnomAD v4:
2-232523830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523830G>T , CM000664.2:g.232523830G>T | GRCh38 |
| NC_000002.11:g.233388540G>T , CM000664.1:g.233388540G>T | GRCh37 |
| NC_000002.10:g.233096784G>T | NCBI36 |
| NG_008028.1:g.2619G>T | |
| NG_031969.1:g.8368G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1071G>T MANE Select | ENSP00000479745.1:p.Glu357Asp | |
| ENST00000449534.6:c.1074G>T | ENSP00000473410.1:p.Glu358Asp | |
| ENST00000617714.1:c.1071G>T | ENSP00000479745.1:p.Glu357Asp | |
| NM_001195129.1:c.1071G>T | NP_001182058.1:p.Glu357Asp | |
| NM_001195129.2:c.1071G>T MANE Select | NP_001182058.1:p.Glu357Asp | |
| NM_001369848.1:c.1074G>T | NP_001356777.1:p.Glu358Asp |