Linked Data
ClinVar Variation Id:
429697
dbSNP Id:
rs776814755
ExAC:
15:28096536 C / T
gnomAD v2:
15-28096536-C-T
gnomAD v3:
15-27851390-C-T
gnomAD v4:
15-27851390-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851390C>T , CM000677.2:g.27851390C>T | GRCh38 |
| NC_000015.9:g.28096536C>T , CM000677.1:g.28096536C>T | GRCh37 |
| NC_000015.8:g.25770131C>T | NCBI36 |
| NG_009846.1:g.252923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2330G>A MANE Select | ENSP00000346659.3:p.Cys777Tyr | |
| ENST00000353809.9:c.2258G>A | ENSP00000261276.8:p.Cys753Tyr | |
| ENST00000354638.7:c.2330G>A | ENSP00000346659.3:p.Cys777Tyr | |
| NM_000275.2:c.2330G>A | NP_000266.2:p.Cys777Tyr | |
| NM_001300984.1:c.2258G>A | NP_001287913.1:p.Cys753Tyr | |
| XM_011521639.1:c.2396G>A | XP_011519941.1:p.Cys799Tyr | |
| XM_011521640.1:c.2372G>A | XP_011519942.1:p.Cys791Tyr | |
| XM_011521641.1:c.2354G>A | XP_011519943.1:p.Cys785Tyr | |
| XM_011521642.1:c.2324G>A | XP_011519944.1:p.Cys775Tyr | |
| XM_011521643.1:c.2282G>A | XP_011519945.1:p.Cys761Tyr | |
| XM_011521644.1:c.2258G>A | XP_011519946.1:p.Cys753Tyr | |
| XM_011521645.1:c.2189G>A | XP_011519947.1:p.Cys730Tyr | |
| XM_011521640.2:c.2372G>A | XP_011519942.1:p.Cys791Tyr | |
| XM_017022255.1:c.2396G>A | XP_016877744.1:p.Cys799Tyr | |
| XM_017022256.1:c.2354G>A | XP_016877745.1:p.Cys785Tyr | |
| XM_017022257.1:c.2324G>A | XP_016877746.1:p.Cys775Tyr | |
| XM_017022258.1:c.2354G>A | XP_016877747.1:p.Cys785Tyr | |
| XM_017022259.1:c.2282G>A | XP_016877748.1:p.Cys761Tyr | |
| XM_017022260.1:c.2258G>A | XP_016877749.1:p.Cys753Tyr | |
| XM_017022261.1:c.2201G>A | XP_016877750.1:p.Cys734Tyr | |
| XM_017022262.1:c.2268+19764G>A | XP_016877751.1:n.2268+19764G>A | |
| XM_017022263.1:c.2189G>A | XP_016877752.1:p.Cys730Tyr | |
| XM_017022264.1:c.2189G>A | XP_016877753.1:p.Cys730Tyr | |
| NM_000275.3:c.2330G>A MANE Select | NP_000266.2:p.Cys777Tyr | |
| NM_001300984.2:c.2258G>A | NP_001287913.1:p.Cys753Tyr |