Linked Data
ClinVar Variation Id:
313941
dbSNP Id:
rs886050662
gnomAD v2:
14-73603213-T-G
gnomAD v3:
14-73136505-T-G
gnomAD v4:
14-73136505-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73136505T>G , CM000676.2:g.73136505T>G | GRCh38 |
| NC_000014.8:g.73603213T>G , CM000676.1:g.73603213T>G | GRCh37 |
| NC_000014.7:g.72672966T>G | NCBI36 |
| NG_007386.2:g.5035T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553447.7:c.-251T>G | ENSP00000514869.1:n.-251T>G | |
| ENST00000553599.6:c.-256T>G | ENSP00000452477.2:n.-256T>G | |
| ENST00000554131.6:c.-255T>G | ENSP00000451915.2:n.-255T>G | |
| ENST00000555386.6:c.-214T>G | ENSP00000450845.1:n.-214T>G | |
| ENST00000556011.6:c.-256T>G | ENSP00000451662.2:n.-256T>G | |
| ENST00000556951.6:c.-210T>G | ENSP00000450551.2:n.-210T>G | |
| ENST00000557293.6:c.-210T>G | ENSP00000451880.2:n.-210T>G | |
| ENST00000697912.1:c.-214T>G | ENSP00000513477.1:n.-214T>G | |
| ENST00000697913.1:n.41T>G | ||
| ENST00000700265.1:c.-104+57T>G | ENSP00000514901.1:n.-104+57T>G | |
| ENST00000700266.1:c.-214T>G | ENSP00000514902.1:n.-214T>G | |
| ENST00000700267.1:c.-136+57T>G | ENSP00000514903.1:n.-136+57T>G | |
| ENST00000700268.1:c.-210T>G | ENSP00000514904.1:n.-210T>G | |
| ENST00000700269.1:c.-256T>G | ENSP00000514905.1:n.-256T>G | |
| ENST00000700270.1:n.55T>G | ||
| ENST00000700271.1:c.-214T>G | ENSP00000514906.1:n.-214T>G | |
| ENST00000700272.1:c.-210T>G | ENSP00000514907.1:n.-210T>G | |
| ENST00000700273.1:c.-256T>G | ENSP00000514908.1:n.-256T>G | |
| ENST00000700302.1:c.-214T>G | ENSP00000514929.1:n.-214T>G | |
| ENST00000700303.1:c.-214T>G | ENSP00000514930.1:n.-214T>G | |
| ENST00000700304.1:c.-214T>G | ENSP00000514931.1:n.-214T>G | |
| ENST00000700305.1:c.-214T>G | ENSP00000514932.1:n.-214T>G | |
| ENST00000700306.1:c.-256T>G | ENSP00000514933.1:n.-256T>G | |
| ENST00000700307.1:c.-214T>G | ENSP00000514934.1:n.-214T>G | |
| ENST00000700308.1:c.-214T>G | ENSP00000514935.1:n.-214T>G | |
| ENST00000700309.1:c.-214T>G | ENSP00000514936.1:n.-214T>G | |
| ENST00000700374.1:n.45T>G | ||
| ENST00000700388.1:n.34T>G | ||
| ENST00000700389.1:c.-379T>G | ENSP00000514970.1:n.-379T>G | |
| ENST00000324501.9:c.-214T>G | ENSP00000326366.5:n.-214T>G | |
| ENST00000357710.8:c.-214T>G | ENSP00000350342.4:n.-214T>G | |
| ENST00000394157.7:c.-214T>G | ENSP00000377712.3:n.-214T>G | |
| ENST00000553447.6:n.29T>G | ||
| ENST00000553599.5:c.-256T>G | ENSP00000452477.1:n.-256T>G | |
| ENST00000553719.5:c.-210T>G | ENSP00000451674.1:n.-210T>G | |
| ENST00000554131.5:c.-255T>G | ENSP00000451915.1:n.-255T>G | |
| ENST00000555254.5:c.-238T>G | ENSP00000450652.1:n.-238T>G | |
| ENST00000556011.5:c.-256T>G | ENSP00000451662.1:n.-256T>G | |
| ENST00000556533.5:c.-203T>G | ENSP00000452128.1:n.-203T>G | |
| ENST00000556864.5:c.-313T>G | ENSP00000451588.1:n.-313T>G | |
| ENST00000556951.5:c.-210T>G | ENSP00000450551.1:n.-210T>G | |
| ENST00000557293.5:c.-210T>G | ENSP00000451880.1:n.-210T>G | |
| ENST00000557356.5:c.-136+57T>G | ENSP00000451498.1:n.-136+57T>G | |
| ENST00000560005.6:c.-316T>G | ENSP00000453466.1:n.-316T>G | |
| NM_000021.3:c.-214T>G | NP_000012.1:n.-214T>G | |
| NM_007318.2:c.-214T>G | NP_015557.2:n.-214T>G | |
| XM_005267864.1:c.-210T>G | XP_005267921.1:n.-210T>G | |
| XM_005267866.1:c.-210T>G | XP_005267923.1:n.-210T>G | |
| XM_005267864.3:c.-210T>G | XP_005267921.1:n.-210T>G | |
| XM_005267866.2:c.-210T>G | XP_005267923.1:n.-210T>G |