Linked Data
dbSNP Id:
rs201930497
ExAC:
1:152084702 G / C
gnomAD v2:
1-152084702-G-C
gnomAD v3:
1-152112226-G-C
gnomAD v4:
1-152112226-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152112226G>C , CM000663.2:g.152112226G>C | GRCh38 |
| NC_000001.10:g.152084702G>C , CM000663.1:g.152084702G>C | GRCh37 |
| NC_000001.9:g.150351326G>C | NCBI36 |
| NG_052960.1:g.8229C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614923.2:c.991C>G MANE Select | ENSP00000480484.1:p.Gln331Glu | |
| ENST00000368804.5:c.991C>G | ENSP00000357794.1:p.Gln331Glu | |
| ENST00000614923.1:c.991C>G | ENSP00000480484.1:p.Gln331Glu | |
| NM_007113.3:c.991C>G | NP_009044.2:p.Gln331Glu | |
| NM_007113.4:c.991C>G MANE Select | NP_009044.2:p.Gln331Glu |