Linked Data
ClinVar Variation Id:
3167206
ClinVar RCV Id:
RCV004464571
dbSNP Id:
rs770411427
ExAC:
11:130750582 C / A
gnomAD v2:
11-130750582-C-A
gnomAD v3:
11-130880687-C-A
gnomAD v4:
11-130880687-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880687C>A , CM000673.2:g.130880687C>A | GRCh38 |
| NC_000011.9:g.130750582C>A , CM000673.1:g.130750582C>A | GRCh37 |
| NC_000011.8:g.130255792C>A | NCBI36 |
| NG_053190.1:g.40802G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2693G>T MANE Select | ENSP00000265909.4:p.Arg898Met | |
| ENST00000265909.8:c.2693G>T | ENSP00000265909.4:p.Arg898Met | |
| ENST00000426933.6:c.197G>T | ENSP00000413345.2:p.Arg66Met | |
| ENST00000526579.5:n.178-976G>T | ||
| ENST00000527116.5:n.455G>T | ||
| ENST00000528555.5:c.833G>T | ENSP00000435122.1:p.Arg278Met | |
| ENST00000530330.1:n.429G>T | ||
| ENST00000530356.5:c.833G>T | ENSP00000432307.1:p.Arg278Met | |
| ENST00000533318.5:n.1053G>T | ||
| ENST00000534726.5:c.413G>T | ENSP00000433699.1:p.Arg138Met | |
| NM_001301089.1:c.833G>T | NP_001288018.1:p.Arg278Met | |
| NM_014758.2:c.2693G>T | NP_055573.2:p.Arg898Met | |
| XM_005271546.3:c.2574-976G>T | XP_005271603.1:n.2574-976G>T | |
| XM_011542819.1:c.2939G>T | XP_011541121.1:p.Arg980Met | |
| XM_011542820.1:c.2927G>T | XP_011541122.1:p.Arg976Met | |
| XM_011542821.1:c.2819G>T | XP_011541123.1:p.Arg940Met | |
| XM_011542824.1:c.2057G>T | XP_011541126.1:p.Arg686Met | |
| XM_011542825.1:c.1214G>T | XP_011541127.1:p.Arg405Met | |
| XM_011542826.1:c.1079G>T | XP_011541128.1:p.Arg360Met | |
| XM_011542827.1:c.959G>T | XP_011541129.1:p.Arg320Met | |
| NM_001347918.1:c.2573G>T | NP_001334847.1:p.Arg858Met | |
| NM_001347919.1:c.2574-976G>T | NP_001334848.1:n.2574-976G>T | |
| NM_001347922.1:c.1022G>T | NP_001334851.1:p.Arg341Met | |
| NM_001347923.1:c.968G>T | NP_001334852.1:p.Arg323Met | |
| NM_001347924.1:c.713G>T | NP_001334853.1:p.Arg238Met | |
| NM_001347925.1:c.659G>T | NP_001334854.1:p.Arg220Met | |
| NM_001347926.1:c.714-976G>T | NP_001334855.1:n.714-976G>T | |
| NM_001347927.1:c.413G>T | NP_001334856.1:p.Arg138Met | |
| NR_144939.1:n.3326G>T | ||
| XM_011542820.2:c.2927G>T | XP_011541122.1:p.Arg976Met | |
| XM_011542821.3:c.2819G>T | XP_011541123.1:p.Arg940Met | |
| XM_011542824.2:c.2057G>T | XP_011541126.1:p.Arg686Met | |
| XM_011542825.2:c.1214G>T | XP_011541127.1:p.Arg405Met | |
| XM_011542826.2:c.1079G>T | XP_011541128.1:p.Arg360Met | |
| XM_024448521.1:c.2939G>T | XP_024304289.1:p.Arg980Met | |
| XR_001747870.1:n.3764G>T | ||
| XR_001747872.1:n.3110G>T | ||
| XR_001747873.1:n.3424G>T | ||
| NM_001301089.2:c.833G>T | NP_001288018.1:p.Arg278Met | |
| NM_001347918.2:c.2573G>T | NP_001334847.2:p.Arg858Met | |
| NM_001347919.2:c.2574-976G>T | NP_001334848.2:n.2574-976G>T | |
| NM_001347920.2:c.*21089G>T | NP_001334849.2:n.*21089G>T | |
| NM_001347922.2:c.1022G>T | NP_001334851.2:p.Arg341Met | |
| NM_001347923.2:c.968G>T | NP_001334852.2:p.Arg323Met | |
| NM_001347924.2:c.713G>T | NP_001334853.1:p.Arg238Met | |
| NM_001347925.2:c.659G>T | NP_001334854.1:p.Arg220Met | |
| NM_001347926.2:c.714-976G>T | NP_001334855.1:n.714-976G>T | |
| NM_001347927.2:c.413G>T | NP_001334856.1:p.Arg138Met | |
| NM_014758.3:c.2693G>T MANE Select | NP_055573.3:p.Arg898Met | |
| NR_144939.2:n.3318G>T |