Linked Data
ClinVar Variation Id:
1543526
ClinVar RCV Id:
RCV002170189
dbSNP Id:
rs562381413
gnomAD v2:
6-51524058-G-A
gnomAD v3:
6-51659260-G-A
gnomAD v4:
6-51659260-G-A
COSMIC:
COSM1131843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659260G>A , CM000668.2:g.51659260G>A | GRCh38 |
| NC_000006.11:g.51524058G>A , CM000668.1:g.51524058G>A | GRCh37 |
| NC_000006.10:g.51632017G>A | NCBI36 |
| NG_008753.1:g.433366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10866C>T MANE Select | ENSP00000360158.3:p.Cys3622= | |
| ENST00000371117.7:c.10866C>T | ENSP00000360158.3:p.Cys3622= | |
| NM_138694.3:c.10866C>T | NP_619639.3:p.Cys3622= | |
| XM_011514679.1:c.10866C>T | XP_011512981.1:p.Cys3622= | |
| XM_011514680.1:c.10866C>T | XP_011512982.1:p.Cys3622= | |
| XM_011514681.1:c.10737C>T | XP_011512983.1:p.Cys3579= | |
| XM_011514682.1:c.10728C>T | XP_011512984.1:p.Cys3576= | |
| XM_011514683.1:c.10224C>T | XP_011512985.1:p.Cys3408= | |
| XM_011514684.1:c.10155C>T | XP_011512986.1:p.Cys3385= | |
| XM_011514687.1:c.10157-10040C>T | XP_011512989.1:n.10157-10040C>T | |
| XM_011514690.1:c.4941C>T | XP_011512992.1:p.Cys1647= | |
| XM_011514691.1:c.4941C>T | XP_011512993.1:p.Cys1647= | |
| XR_926870.1:n.535+6887G>A | ||
| XR_926871.1:n.403+6887G>A | ||
| XR_926872.1:n.535+6887G>A | ||
| XM_011514680.3:c.10866C>T | XP_011512982.1:p.Cys3622= | |
| XM_011514682.3:c.10728C>T | XP_011512984.1:p.Cys3576= | |
| XM_011514683.3:c.10224C>T | XP_011512985.1:p.Cys3408= | |
| XM_011514684.3:c.10155C>T | XP_011512986.1:p.Cys3385= | |
| XM_011514690.3:c.4941C>T | XP_011512992.1:p.Cys1647= | |
| XM_011514691.3:c.4941C>T | XP_011512993.1:p.Cys1647= | |
| XM_017010944.2:c.10866C>T | XP_016866433.1:p.Cys3622= | |
| XM_017010945.2:c.10791C>T | XP_016866434.1:p.Cys3597= | |
| XM_017010946.2:c.10671C>T | XP_016866435.1:p.Cys3557= | |
| XM_017010947.2:c.10602C>T | XP_016866436.1:p.Cys3534= | |
| XM_017010948.2:c.10155C>T | XP_016866437.1:p.Cys3385= | |
| XM_017010949.2:c.9006C>T | XP_016866438.1:p.Cys3002= | |
| XR_001743469.1:n.11142C>T | ||
| XR_001744157.1:n.3145+6887G>A | ||
| XR_926870.2:n.3145+6887G>A | ||
| XR_926871.2:n.3013+6887G>A | ||
| XR_926872.2:n.3145+6887G>A | ||
| NM_138694.4:c.10866C>T MANE Select | NP_619639.3:p.Cys3622= |