Linked Data
dbSNP Id:
rs141113951
ExAC:
1:17660463 A / G
gnomAD v2:
1-17660463-A-G
gnomAD v3:
1-17333968-A-G
gnomAD v4:
1-17333968-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17333968A>G , CM000663.2:g.17333968A>G | GRCh38 |
| NC_000001.10:g.17660463A>G , CM000663.1:g.17660463A>G | GRCh37 |
| NC_000001.9:g.17533050A>G | NCBI36 |
| NG_023261.2:g.30779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.299A>G MANE Select | ENSP00000364597.4:p.Lys100Arg | |
| ENST00000375453.5:c.299A>G | ENSP00000364602.1:p.Lys100Arg | |
| NM_012387.2:c.299A>G | NP_036519.2:p.Lys100Arg | |
| XM_011541150.1:c.299A>G | XP_011539452.1:p.Lys100Arg | |
| XM_011541151.1:c.299A>G | XP_011539453.1:p.Lys100Arg | |
| XM_011541153.1:c.299A>G | XP_011539455.1:p.Lys100Arg | |
| XM_011541154.1:c.299A>G | XP_011539456.1:p.Lys100Arg | |
| XM_011541155.1:c.299A>G | XP_011539457.1:p.Lys100Arg | |
| XM_011541156.1:c.299A>G | XP_011539458.1:p.Lys100Arg | |
| XM_011541154.2:c.299A>G | XP_011539456.1:p.Lys100Arg | |
| NM_012387.3:c.299A>G MANE Select | NP_036519.2:p.Lys100Arg |