Linked Data
dbSNP Id:
rs11803731
ExAC:
1:152083325 A / C
gnomAD v2:
1-152083325-A-C
gnomAD v3:
1-152110849-A-C
gnomAD v4:
1-152110849-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152110849A>C , CM000663.2:g.152110849A>C | GRCh38 |
| NC_000001.10:g.152083325A>C , CM000663.1:g.152083325A>C | GRCh37 |
| NC_000001.9:g.150349949A>C | NCBI36 |
| NG_052960.1:g.9606T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614923.2:c.2368T>G MANE Select | ENSP00000480484.1:p.Leu790Val | |
| ENST00000368804.5:c.2368T>G | ENSP00000357794.1:p.Leu790Val | |
| ENST00000614923.1:c.2368T>G | ENSP00000480484.1:p.Leu790Val | |
| NM_007113.3:c.2368T>G | NP_009044.2:p.Leu790Val | |
| NM_007113.4:c.2368T>G MANE Select | NP_009044.2:p.Leu790Val |