Linked Data
ClinVar Variation Id:
3051091
ClinVar RCV Id:
RCV003947249
dbSNP Id:
rs1772415566
MyVariant Identifiers:
chr6:g.51524055A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659257A>T , CM000668.2:g.51659257A>T | GRCh38 |
| NC_000006.11:g.51524055A>T , CM000668.1:g.51524055A>T | GRCh37 |
| NC_000006.10:g.51632014A>T | NCBI36 |
| NG_008753.1:g.433369T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10869T>A MANE Select | ENSP00000360158.3:p.Pro3623= | |
| ENST00000371117.7:c.10869T>A | ENSP00000360158.3:p.Pro3623= | |
| NM_138694.3:c.10869T>A | NP_619639.3:p.Pro3623= | |
| XM_011514679.1:c.10869T>A | XP_011512981.1:p.Pro3623= | |
| XM_011514680.1:c.10869T>A | XP_011512982.1:p.Pro3623= | |
| XM_011514681.1:c.10740T>A | XP_011512983.1:p.Pro3580= | |
| XM_011514682.1:c.10731T>A | XP_011512984.1:p.Pro3577= | |
| XM_011514683.1:c.10227T>A | XP_011512985.1:p.Pro3409= | |
| XM_011514684.1:c.10158T>A | XP_011512986.1:p.Pro3386= | |
| XM_011514687.1:c.10157-10037T>A | XP_011512989.1:n.10157-10037T>A | |
| XM_011514690.1:c.4944T>A | XP_011512992.1:p.Pro1648= | |
| XM_011514691.1:c.4944T>A | XP_011512993.1:p.Pro1648= | |
| XR_926870.1:n.535+6884A>T | ||
| XR_926871.1:n.403+6884A>T | ||
| XR_926872.1:n.535+6884A>T | ||
| XM_011514680.3:c.10869T>A | XP_011512982.1:p.Pro3623= | |
| XM_011514682.3:c.10731T>A | XP_011512984.1:p.Pro3577= | |
| XM_011514683.3:c.10227T>A | XP_011512985.1:p.Pro3409= | |
| XM_011514684.3:c.10158T>A | XP_011512986.1:p.Pro3386= | |
| XM_011514690.3:c.4944T>A | XP_011512992.1:p.Pro1648= | |
| XM_011514691.3:c.4944T>A | XP_011512993.1:p.Pro1648= | |
| XM_017010944.2:c.10869T>A | XP_016866433.1:p.Pro3623= | |
| XM_017010945.2:c.10794T>A | XP_016866434.1:p.Pro3598= | |
| XM_017010946.2:c.10674T>A | XP_016866435.1:p.Pro3558= | |
| XM_017010947.2:c.10605T>A | XP_016866436.1:p.Pro3535= | |
| XM_017010948.2:c.10158T>A | XP_016866437.1:p.Pro3386= | |
| XM_017010949.2:c.9009T>A | XP_016866438.1:p.Pro3003= | |
| XR_001743469.1:n.11145T>A | ||
| XR_001744157.1:n.3145+6884A>T | ||
| XR_926870.2:n.3145+6884A>T | ||
| XR_926871.2:n.3013+6884A>T | ||
| XR_926872.2:n.3145+6884A>T | ||
| NM_138694.4:c.10869T>A MANE Select | NP_619639.3:p.Pro3623= |