Linked Data
dbSNP Id:
rs61729907
ExAC:
19:9325252 G / A
gnomAD v2:
19-9325252-G-A
gnomAD v3:
19-9214576-G-A
gnomAD v4:
19-9214576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214576G>A , CM000681.2:g.9214576G>A | GRCh38 |
| NC_000019.9:g.9325252G>A , CM000681.1:g.9325252G>A | GRCh37 |
| NC_000019.8:g.9186252G>A | NCBI36 |
| NG_027953.1:g.5296C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641244.1:c.262C>T | ENSP00000493404.1:p.Arg88Trp | |
| ENST00000641669.1:c.262C>T MANE Select | ENSP00000493383.1:p.Arg88Trp | |
| ENST00000308682.3:c.262C>T | ENSP00000310488.2:p.Arg88Trp | |
| NM_001005191.2:c.262C>T | NP_001005191.1:p.Arg88Trp | |
| NM_001005191.3:c.262C>T MANE Select | NP_001005191.1:p.Arg88Trp |