Linked Data
ClinVar Variation Id:
697
ClinVar RCV Id:
RCV000000732
dbSNP Id:
rs113994125
gnomAD v4:
9-133570501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133570501G>A , CM000671.2:g.133570501G>A | GRCh38 |
| NC_000009.11:g.136435623G>A , CM000671.1:g.136435623G>A | GRCh37 |
| NC_000009.10:g.135425444G>A | NCBI36 |
| NG_009931.1:g.43338G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651351.2:c.2586G>A MANE Select | ENSP00000498961.2:p.Trp862Ter | |
| ENST00000354484.8:c.2586G>A | ENSP00000346478.4:p.Trp862Ter | |
| ENST00000393060.1:c.2586G>A | ENSP00000376780.1:p.Trp862Ter | |
| ENST00000393061.7:c.2913G>A | ENSP00000376781.3:p.Trp971Ter | |
| NM_001145320.1:c.2586G>A | NP_001138792.1:p.Trp862Ter | |
| NM_014694.3:c.2586G>A | NP_055509.2:p.Trp862Ter | |
| XM_005272237.2:c.2913G>A | XP_005272294.1:p.Trp971Ter | |
| XM_005272238.2:c.2616G>A | XP_005272295.1:p.Trp872Ter | |
| XM_005272239.2:c.2586G>A | XP_005272296.1:p.Trp862Ter | |
| XM_006717337.2:c.2586G>A | XP_006717400.1:p.Trp862Ter | |
| XM_011519241.1:c.2469G>A | XP_011517543.1:p.Trp823Ter | |
| XM_011519242.1:c.2652G>A | XP_011517544.1:p.Trp884Ter | |
| XM_005272237.3:c.2913G>A | XP_005272294.1:p.Trp971Ter | |
| XM_005272238.3:c.2616G>A | XP_005272295.1:p.Trp872Ter | |
| XM_011519241.2:c.2796G>A | XP_011517543.2:p.Trp932Ter | |
| XM_011519242.3:c.2652G>A | XP_011517544.1:p.Trp884Ter | |
| NM_014694.4:c.2586G>A MANE Select | NP_055509.2:p.Trp862Ter | |
| NM_001145320.2:c.2586G>A | NP_001138792.1:p.Trp862Ter |