Linked Data
gnomAD v4:
15-73322614-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322614G>C , CM000677.2:g.73322614G>C | GRCh38 |
| NC_000015.9:g.73614955G>C , CM000677.1:g.73614955G>C | GRCh37 |
| NC_000015.8:g.71402008G>C | NCBI36 |
| NG_009063.1:g.51651C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3479C>G MANE Select | ENSP00000261917.3:p.Ser1160Cys | |
| ENST00000261917.3:c.3479C>G | ENSP00000261917.3:p.Ser1160Cys | |
| NM_005477.2:c.3479C>G | NP_005468.1:p.Ser1160Cys | |
| XM_011521148.1:c.2261C>G | XP_011519450.1:p.Ser754Cys | |
| XM_011521148.2:c.2261C>G | XP_011519450.1:p.Ser754Cys | |
| NM_005477.3:c.3479C>G MANE Select | NP_005468.1:p.Ser1160Cys |