Linked Data
ClinVar Variation Id:
1974689
ClinVar RCV Id:
RCV002765748
MyVariant Identifiers:
chr6:g.51524064G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659266G>A , CM000668.2:g.51659266G>A | GRCh38 |
| NC_000006.11:g.51524064G>A , CM000668.1:g.51524064G>A | GRCh37 |
| NC_000006.10:g.51632023G>A | NCBI36 |
| NG_008753.1:g.433360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10860C>T MANE Select | ENSP00000360158.3:p.Arg3620= | |
| ENST00000371117.7:c.10860C>T | ENSP00000360158.3:p.Arg3620= | |
| NM_138694.3:c.10860C>T | NP_619639.3:p.Arg3620= | |
| XM_011514679.1:c.10860C>T | XP_011512981.1:p.Arg3620= | |
| XM_011514680.1:c.10860C>T | XP_011512982.1:p.Arg3620= | |
| XM_011514681.1:c.10731C>T | XP_011512983.1:p.Arg3577= | |
| XM_011514682.1:c.10722C>T | XP_011512984.1:p.Arg3574= | |
| XM_011514683.1:c.10218C>T | XP_011512985.1:p.Arg3406= | |
| XM_011514684.1:c.10149C>T | XP_011512986.1:p.Arg3383= | |
| XM_011514687.1:c.10157-10046C>T | XP_011512989.1:n.10157-10046C>T | |
| XM_011514690.1:c.4935C>T | XP_011512992.1:p.Arg1645= | |
| XM_011514691.1:c.4935C>T | XP_011512993.1:p.Arg1645= | |
| XR_926870.1:n.535+6893G>A | ||
| XR_926871.1:n.403+6893G>A | ||
| XR_926872.1:n.535+6893G>A | ||
| XM_011514680.3:c.10860C>T | XP_011512982.1:p.Arg3620= | |
| XM_011514682.3:c.10722C>T | XP_011512984.1:p.Arg3574= | |
| XM_011514683.3:c.10218C>T | XP_011512985.1:p.Arg3406= | |
| XM_011514684.3:c.10149C>T | XP_011512986.1:p.Arg3383= | |
| XM_011514690.3:c.4935C>T | XP_011512992.1:p.Arg1645= | |
| XM_011514691.3:c.4935C>T | XP_011512993.1:p.Arg1645= | |
| XM_017010944.2:c.10860C>T | XP_016866433.1:p.Arg3620= | |
| XM_017010945.2:c.10785C>T | XP_016866434.1:p.Arg3595= | |
| XM_017010946.2:c.10665C>T | XP_016866435.1:p.Arg3555= | |
| XM_017010947.2:c.10596C>T | XP_016866436.1:p.Arg3532= | |
| XM_017010948.2:c.10149C>T | XP_016866437.1:p.Arg3383= | |
| XM_017010949.2:c.9000C>T | XP_016866438.1:p.Arg3000= | |
| XR_001743469.1:n.11136C>T | ||
| XR_001744157.1:n.3145+6893G>A | ||
| XR_926870.2:n.3145+6893G>A | ||
| XR_926871.2:n.3013+6893G>A | ||
| XR_926872.2:n.3145+6893G>A | ||
| NM_138694.4:c.10860C>T MANE Select | NP_619639.3:p.Arg3620= |