Linked Data
dbSNP Id:
rs760504240
ExAC:
11:130750598 A / G
gnomAD v2:
11-130750598-A-G
gnomAD v3:
11-130880703-A-G
gnomAD v4:
11-130880703-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880703A>G , CM000673.2:g.130880703A>G | GRCh38 |
| NC_000011.9:g.130750598A>G , CM000673.1:g.130750598A>G | GRCh37 |
| NC_000011.8:g.130255808A>G | NCBI36 |
| NG_053190.1:g.40786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2677T>C MANE Select | ENSP00000265909.4:p.Phe893Leu | |
| ENST00000265909.8:c.2677T>C | ENSP00000265909.4:p.Phe893Leu | |
| ENST00000426933.6:c.181T>C | ENSP00000413345.2:p.Phe61Leu | |
| ENST00000526579.5:n.178-992T>C | ||
| ENST00000527116.5:n.439T>C | ||
| ENST00000528555.5:c.817T>C | ENSP00000435122.1:p.Phe273Leu | |
| ENST00000530330.1:n.413T>C | ||
| ENST00000530356.5:c.817T>C | ENSP00000432307.1:p.Phe273Leu | |
| ENST00000533318.5:n.1037T>C | ||
| ENST00000534726.5:c.397T>C | ENSP00000433699.1:p.Phe133Leu | |
| NM_001301089.1:c.817T>C | NP_001288018.1:p.Phe273Leu | |
| NM_014758.2:c.2677T>C | NP_055573.2:p.Phe893Leu | |
| XM_005271546.3:c.2574-992T>C | XP_005271603.1:n.2574-992T>C | |
| XM_011542819.1:c.2923T>C | XP_011541121.1:p.Phe975Leu | |
| XM_011542820.1:c.2911T>C | XP_011541122.1:p.Phe971Leu | |
| XM_011542821.1:c.2803T>C | XP_011541123.1:p.Phe935Leu | |
| XM_011542824.1:c.2041T>C | XP_011541126.1:p.Phe681Leu | |
| XM_011542825.1:c.1198T>C | XP_011541127.1:p.Phe400Leu | |
| XM_011542826.1:c.1063T>C | XP_011541128.1:p.Phe355Leu | |
| XM_011542827.1:c.943T>C | XP_011541129.1:p.Phe315Leu | |
| NM_001347918.1:c.2557T>C | NP_001334847.1:p.Phe853Leu | |
| NM_001347919.1:c.2574-992T>C | NP_001334848.1:n.2574-992T>C | |
| NM_001347922.1:c.1006T>C | NP_001334851.1:p.Phe336Leu | |
| NM_001347923.1:c.952T>C | NP_001334852.1:p.Phe318Leu | |
| NM_001347924.1:c.697T>C | NP_001334853.1:p.Phe233Leu | |
| NM_001347925.1:c.643T>C | NP_001334854.1:p.Phe215Leu | |
| NM_001347926.1:c.714-992T>C | NP_001334855.1:n.714-992T>C | |
| NM_001347927.1:c.397T>C | NP_001334856.1:p.Phe133Leu | |
| NR_144939.1:n.3310T>C | ||
| XM_011542820.2:c.2911T>C | XP_011541122.1:p.Phe971Leu | |
| XM_011542821.3:c.2803T>C | XP_011541123.1:p.Phe935Leu | |
| XM_011542824.2:c.2041T>C | XP_011541126.1:p.Phe681Leu | |
| XM_011542825.2:c.1198T>C | XP_011541127.1:p.Phe400Leu | |
| XM_011542826.2:c.1063T>C | XP_011541128.1:p.Phe355Leu | |
| XM_024448521.1:c.2923T>C | XP_024304289.1:p.Phe975Leu | |
| XR_001747870.1:n.3748T>C | ||
| XR_001747872.1:n.3094T>C | ||
| XR_001747873.1:n.3408T>C | ||
| NM_001301089.2:c.817T>C | NP_001288018.1:p.Phe273Leu | |
| NM_001347918.2:c.2557T>C | NP_001334847.2:p.Phe853Leu | |
| NM_001347919.2:c.2574-992T>C | NP_001334848.2:n.2574-992T>C | |
| NM_001347920.2:c.*21073T>C | NP_001334849.2:n.*21073T>C | |
| NM_001347922.2:c.1006T>C | NP_001334851.2:p.Phe336Leu | |
| NM_001347923.2:c.952T>C | NP_001334852.2:p.Phe318Leu | |
| NM_001347924.2:c.697T>C | NP_001334853.1:p.Phe233Leu | |
| NM_001347925.2:c.643T>C | NP_001334854.1:p.Phe215Leu | |
| NM_001347926.2:c.714-992T>C | NP_001334855.1:n.714-992T>C | |
| NM_001347927.2:c.397T>C | NP_001334856.1:p.Phe133Leu | |
| NM_014758.3:c.2677T>C MANE Select | NP_055573.3:p.Phe893Leu | |
| NR_144939.2:n.3302T>C |