Linked Data
dbSNP Id:
rs1463871643
gnomAD v2:
5-10286571-A-G
gnomAD v3:
5-10286459-A-G
gnomAD v4:
5-10286459-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286459A>G , CM000667.2:g.10286459A>G | GRCh38 |
| NC_000005.9:g.10286571A>G , CM000667.1:g.10286571A>G | GRCh37 |
| NC_000005.8:g.10339571A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.361T>C MANE Select | ENSP00000296658.3:p.Cys121Arg | |
| ENST00000296658.3:c.361T>C | ENSP00000296658.3:p.Cys121Arg | |
| ENST00000506821.1:n.615T>C | ||
| ENST00000510532.5:n.429T>C | ||
| ENST00000511963.5:n.469T>C | ||
| NM_138809.3:c.361T>C | NP_620164.1:p.Cys121Arg | |
| NM_138809.4:c.361T>C MANE Select | NP_620164.1:p.Cys121Arg |