Linked Data
ClinVar Variation Id:
12694
ClinVar RCV Id:
RCV000013531
dbSNP Id:
rs2076739
gnomAD v4:
8-132971804-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132971804T>A , CM000670.2:g.132971804T>A | GRCh38 |
| NC_000008.10:g.133984049T>A , CM000670.1:g.133984049T>A | GRCh37 |
| NC_000008.9:g.134053231T>A | NCBI36 |
| NG_015832.1:g.109845T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220616.9:c.5986T>A MANE Select | ENSP00000220616.4:p.Cys1996Ser | |
| ENST00000220616.8:c.5986T>A | ENSP00000220616.4:p.Cys1996Ser | |
| ENST00000519178.5:c.1352T>A | ||
| ENST00000519543.5:c.448T>A | ENSP00000430430.1:p.Cys150Ser | |
| ENST00000520089.5:n.95T>A | ||
| ENST00000520197.5:n.123T>A | ||
| ENST00000523756.5:c.2641T>A | ||
| NM_003235.4:c.5986T>A | NP_003226.4:p.Cys1996Ser | |
| XM_005251038.3:c.5794T>A | XP_005251095.1:p.Cys1932Ser | |
| XM_005251040.3:c.5986T>A | XP_005251097.1:p.Cys1996Ser | |
| XM_005251042.3:c.5986T>A | XP_005251099.1:p.Cys1996Ser | |
| XM_005251043.3:c.5986T>A | XP_005251100.1:p.Cys1996Ser | |
| XM_006716622.2:c.5986T>A | XP_006716685.1:p.Cys1996Ser | |
| XM_005251038.4:c.5794T>A | XP_005251095.1:p.Cys1932Ser | |
| XM_005251040.4:c.5986T>A | XP_005251097.1:p.Cys1996Ser | |
| XM_005251042.4:c.5986T>A | XP_005251099.1:p.Cys1996Ser | |
| XM_006716622.3:c.5986T>A | XP_006716685.1:p.Cys1996Ser | |
| XM_017013793.1:c.5920T>A | XP_016869282.1:p.Cys1974Ser | |
| XM_017013794.1:c.5986T>A | XP_016869283.1:p.Cys1996Ser | |
| XM_017013795.1:c.5815T>A | XP_016869284.1:p.Cys1939Ser | |
| XM_017013796.1:c.5767T>A | XP_016869285.1:p.Cys1923Ser | |
| XM_017013797.1:c.5725T>A | XP_016869286.1:p.Cys1909Ser | |
| XM_017013798.1:c.5986T>A | XP_016869287.1:p.Cys1996Ser | |
| XM_017013799.1:c.5986T>A | XP_016869288.1:p.Cys1996Ser | |
| XM_017013800.1:c.5986T>A | XP_016869289.1:p.Cys1996Ser | |
| NM_003235.5:c.5986T>A MANE Select | NP_003226.4:p.Cys1996Ser |