Linked Data
dbSNP Id:
rs753435643
ExAC:
11:130750656 C / T
gnomAD v2:
11-130750656-C-T
gnomAD v4:
11-130880761-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880761C>T , CM000673.2:g.130880761C>T | GRCh38 |
| NC_000011.9:g.130750656C>T , CM000673.1:g.130750656C>T | GRCh37 |
| NC_000011.8:g.130255866C>T | NCBI36 |
| NG_053190.1:g.40728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2619G>A MANE Select | ENSP00000265909.4:p.Trp873Ter | |
| ENST00000265909.8:c.2619G>A | ENSP00000265909.4:p.Trp873Ter | |
| ENST00000426933.6:c.123G>A | ENSP00000413345.2:p.Trp41Ter | |
| ENST00000526579.5:n.178-1050G>A | ||
| ENST00000527116.5:n.381G>A | ||
| ENST00000528555.5:c.759G>A | ENSP00000435122.1:p.Trp253Ter | |
| ENST00000530330.1:n.355G>A | ||
| ENST00000530356.5:c.759G>A | ENSP00000432307.1:p.Trp253Ter | |
| ENST00000533318.5:n.979G>A | ||
| ENST00000534726.5:c.339G>A | ENSP00000433699.1:p.Trp113Ter | |
| NM_001301089.1:c.759G>A | NP_001288018.1:p.Trp253Ter | |
| NM_014758.2:c.2619G>A | NP_055573.2:p.Trp873Ter | |
| XM_005271546.3:c.2574-1050G>A | XP_005271603.1:n.2574-1050G>A | |
| XM_011542819.1:c.2865G>A | XP_011541121.1:p.Trp955Ter | |
| XM_011542820.1:c.2853G>A | XP_011541122.1:p.Trp951Ter | |
| XM_011542821.1:c.2745G>A | XP_011541123.1:p.Trp915Ter | |
| XM_011542824.1:c.1983G>A | XP_011541126.1:p.Trp661Ter | |
| XM_011542825.1:c.1140G>A | XP_011541127.1:p.Trp380Ter | |
| XM_011542826.1:c.1005G>A | XP_011541128.1:p.Trp335Ter | |
| XM_011542827.1:c.885G>A | XP_011541129.1:p.Trp295Ter | |
| NM_001347918.1:c.2499G>A | NP_001334847.1:p.Trp833Ter | |
| NM_001347919.1:c.2574-1050G>A | NP_001334848.1:n.2574-1050G>A | |
| NM_001347922.1:c.948G>A | NP_001334851.1:p.Trp316Ter | |
| NM_001347923.1:c.894G>A | NP_001334852.1:p.Trp298Ter | |
| NM_001347924.1:c.639G>A | NP_001334853.1:p.Trp213Ter | |
| NM_001347925.1:c.585G>A | NP_001334854.1:p.Trp195Ter | |
| NM_001347926.1:c.714-1050G>A | NP_001334855.1:n.714-1050G>A | |
| NM_001347927.1:c.339G>A | NP_001334856.1:p.Trp113Ter | |
| NR_144939.1:n.3252G>A | ||
| XM_011542820.2:c.2853G>A | XP_011541122.1:p.Trp951Ter | |
| XM_011542821.3:c.2745G>A | XP_011541123.1:p.Trp915Ter | |
| XM_011542824.2:c.1983G>A | XP_011541126.1:p.Trp661Ter | |
| XM_011542825.2:c.1140G>A | XP_011541127.1:p.Trp380Ter | |
| XM_011542826.2:c.1005G>A | XP_011541128.1:p.Trp335Ter | |
| XM_024448521.1:c.2865G>A | XP_024304289.1:p.Trp955Ter | |
| XR_001747870.1:n.3690G>A | ||
| XR_001747872.1:n.3036G>A | ||
| XR_001747873.1:n.3350G>A | ||
| NM_001301089.2:c.759G>A | NP_001288018.1:p.Trp253Ter | |
| NM_001347918.2:c.2499G>A | NP_001334847.2:p.Trp833Ter | |
| NM_001347919.2:c.2574-1050G>A | NP_001334848.2:n.2574-1050G>A | |
| NM_001347920.2:c.*21015G>A | NP_001334849.2:n.*21015G>A | |
| NM_001347922.2:c.948G>A | NP_001334851.2:p.Trp316Ter | |
| NM_001347923.2:c.894G>A | NP_001334852.2:p.Trp298Ter | |
| NM_001347924.2:c.639G>A | NP_001334853.1:p.Trp213Ter | |
| NM_001347925.2:c.585G>A | NP_001334854.1:p.Trp195Ter | |
| NM_001347926.2:c.714-1050G>A | NP_001334855.1:n.714-1050G>A | |
| NM_001347927.2:c.339G>A | NP_001334856.1:p.Trp113Ter | |
| NM_014758.3:c.2619G>A MANE Select | NP_055573.3:p.Trp873Ter | |
| NR_144939.2:n.3244G>A |