Linked Data
ClinVar Variation Id:
96985
ClinVar RCV Id:
RCV000083249
dbSNP Id:
rs431825173
ExAC:
11:130784993 G / A
gnomAD v2:
11-130784993-G-A
gnomAD v3:
11-130915098-G-A
gnomAD v4:
11-130915098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130915098G>A , CM000673.2:g.130915098G>A | GRCh38 |
| NC_000011.9:g.130784993G>A , CM000673.1:g.130784993G>A | GRCh37 |
| NC_000011.8:g.130290203G>A | NCBI36 |
| NG_053190.1:g.6391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.842C>T MANE Select | ENSP00000265909.4:p.Ala281Val | |
| ENST00000265909.8:c.842C>T | ENSP00000265909.4:p.Ala281Val | |
| ENST00000528555.5:c.-187+1182C>T | ENSP00000435122.1:n.-187+1182C>T | |
| ENST00000530356.5:c.-242-349C>T | ENSP00000432307.1:n.-242-349C>T | |
| ENST00000531608.1:n.200+1182C>T | ||
| ENST00000533214.1:c.842C>T | ENSP00000435390.1:p.Ala281Val | |
| ENST00000533318.5:n.165+1182C>T | ||
| NM_001301089.1:c.-187+1182C>T | NP_001288018.1:n.-187+1182C>T | |
| NM_014758.2:c.842C>T | NP_055573.2:p.Ala281Val | |
| XM_005271546.3:c.842C>T | XP_005271603.1:p.Ala281Val | |
| XM_011542819.1:c.842C>T | XP_011541121.1:p.Ala281Val | |
| XM_011542820.1:c.842C>T | XP_011541122.1:p.Ala281Val | |
| XM_011542821.1:c.842C>T | XP_011541123.1:p.Ala281Val | |
| XM_011542822.1:c.842C>T | XP_011541124.1:p.Ala281Val | |
| XM_011542823.1:c.842C>T | XP_011541125.1:p.Ala281Val | |
| XM_011542824.1:c.792+50C>T | XP_011541126.1:n.792+50C>T | |
| XM_011542825.1:c.-234+1182C>T | XP_011541127.1:n.-234+1182C>T | |
| XM_011542826.1:c.-187+1182C>T | XP_011541128.1:n.-187+1182C>T | |
| XM_011542827.1:c.-187+1182C>T | XP_011541129.1:n.-187+1182C>T | |
| XR_428976.1:n.1176C>T | ||
| XR_428977.1:n.1176C>T | ||
| NM_001347918.1:c.842C>T | NP_001334847.1:p.Ala281Val | |
| NM_001347919.1:c.842C>T | NP_001334848.1:p.Ala281Val | |
| NM_001347920.1:c.842C>T | NP_001334849.1:p.Ala281Val | |
| NM_001347921.1:c.842C>T | NP_001334850.1:p.Ala281Val | |
| NM_001347922.1:c.-53-349C>T | NP_001334851.1:n.-53-349C>T | |
| NM_001347923.1:c.-234+1182C>T | NP_001334852.1:n.-234+1182C>T | |
| NM_001347924.1:c.-48+1182C>T | NP_001334853.1:n.-48+1182C>T | |
| NM_001347925.1:c.-628+1182C>T | NP_001334854.1:n.-628+1182C>T | |
| NM_001347926.1:c.-187+1182C>T | NP_001334855.1:n.-187+1182C>T | |
| NM_001347927.1:c.-337+1182C>T | NP_001334856.1:n.-337+1182C>T | |
| NR_144939.1:n.1390C>T | ||
| XM_011542820.2:c.842C>T | XP_011541122.1:p.Ala281Val | |
| XM_011542821.3:c.842C>T | XP_011541123.1:p.Ala281Val | |
| XM_011542824.2:c.792+50C>T | XP_011541126.1:n.792+50C>T | |
| XM_011542825.2:c.-234+1182C>T | XP_011541127.1:n.-234+1182C>T | |
| XM_011542826.2:c.-187+1182C>T | XP_011541128.1:n.-187+1182C>T | |
| XM_024448521.1:c.842C>T | XP_024304289.1:p.Ala281Val | |
| XR_001747870.1:n.1389C>T | ||
| XR_001747872.1:n.1390C>T | ||
| XR_001747873.1:n.1391C>T | ||
| NM_001301089.2:c.-187+1182C>T | NP_001288018.1:n.-187+1182C>T | |
| NM_001347918.2:c.842C>T | NP_001334847.2:p.Ala281Val | |
| NM_001347919.2:c.842C>T | NP_001334848.2:p.Ala281Val | |
| NM_001347920.2:c.842C>T | NP_001334849.2:p.Ala281Val | |
| NM_001347921.2:c.842C>T | NP_001334850.2:p.Ala281Val | |
| NM_001347922.2:c.-53-349C>T | NP_001334851.2:n.-53-349C>T | |
| NM_001347923.2:c.-234+1182C>T | NP_001334852.2:n.-234+1182C>T | |
| NM_001347924.2:c.-48+1182C>T | NP_001334853.1:n.-48+1182C>T | |
| NM_001347925.2:c.-628+1182C>T | NP_001334854.1:n.-628+1182C>T | |
| NM_001347926.2:c.-187+1182C>T | NP_001334855.1:n.-187+1182C>T | |
| NM_001347927.2:c.-337+1182C>T | NP_001334856.1:n.-337+1182C>T | |
| NM_014758.3:c.842C>T MANE Select | NP_055573.3:p.Ala281Val | |
| NR_144939.2:n.1382C>T |