Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769118G>C , CM000667.2:g.14769118G>C | GRCh38 |
| NC_000005.9:g.14769227G>C , CM000667.1:g.14769227G>C | GRCh37 |
| NC_000005.8:g.14822227G>C | NCBI36 |
| NG_008273.1:g.107661C>G | |
| NG_008273.2:g.107668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.170C>G MANE Select | ENSP00000284268.6:p.Ser57Cys | |
| ENST00000646501.1:c.33C>G | ||
| ENST00000284268.6:c.170C>G | ENSP00000284268.6:p.Ser57Cys | |
| ENST00000503389.1:n.176C>G | ||
| ENST00000513115.1:n.195C>G | ||
| NM_054027.4:c.170C>G | NP_473368.1:p.Ser57Cys | |
| XM_011514067.1:c.170C>G | XP_011512369.1:p.Ser57Cys | |
| NM_054027.5:c.170C>G | NP_473368.1:p.Ser57Cys | |
| XM_017009644.2:c.86C>G | XP_016865133.1:p.Ser29Cys | |
| NM_054027.6:c.170C>G MANE Select | NP_473368.1:p.Ser57Cys |