Linked Data
dbSNP Id:
rs192945742
gnomAD v2:
14-73603168-C-T
gnomAD v3:
14-73136460-C-T
gnomAD v4:
14-73136460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73136460C>T , CM000676.2:g.73136460C>T | GRCh38 |
| NC_000014.8:g.73603168C>T , CM000676.1:g.73603168C>T | GRCh37 |
| NC_000014.7:g.72672921C>T | NCBI36 |
| NG_007386.2:g.4990C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.-301C>T | ENSP00000452477.2:n.-301C>T | |
| ENST00000555386.6:c.-259C>T | ENSP00000450845.1:n.-259C>T | |
| ENST00000556011.6:c.-301C>T | ENSP00000451662.2:n.-301C>T | |
| ENST00000556951.6:c.-255C>T | ENSP00000450551.2:n.-255C>T | |
| ENST00000557293.6:c.-255C>T | ENSP00000451880.2:n.-255C>T | |
| ENST00000697912.1:c.-259C>T | ENSP00000513477.1:n.-259C>T | |
| ENST00000700265.1:c.-104+12C>T | ENSP00000514901.1:n.-104+12C>T | |
| ENST00000700266.1:c.-259C>T | ENSP00000514902.1:n.-259C>T | |
| ENST00000700267.1:c.-136+12C>T | ENSP00000514903.1:n.-136+12C>T | |
| ENST00000700268.1:c.-255C>T | ENSP00000514904.1:n.-255C>T | |
| ENST00000700269.1:c.-301C>T | ENSP00000514905.1:n.-301C>T | |
| ENST00000700270.1:n.10C>T | ||
| ENST00000700271.1:c.-259C>T | ENSP00000514906.1:n.-259C>T | |
| ENST00000700272.1:c.-255C>T | ENSP00000514907.1:n.-255C>T | |
| ENST00000700273.1:c.-301C>T | ENSP00000514908.1:n.-301C>T | |
| ENST00000700302.1:c.-259C>T | ENSP00000514929.1:n.-259C>T | |
| ENST00000700303.1:c.-259C>T | ENSP00000514930.1:n.-259C>T | |
| ENST00000324501.9:c.-259C>T | ENSP00000326366.5:n.-259C>T | |
| ENST00000357710.8:c.-259C>T | ENSP00000350342.4:n.-259C>T | |
| ENST00000394157.7:c.-259C>T | ENSP00000377712.3:n.-259C>T | |
| ENST00000553599.5:c.-301C>T | ENSP00000452477.1:n.-301C>T | |
| ENST00000553719.5:c.-255C>T | ENSP00000451674.1:n.-255C>T | |
| ENST00000555254.5:c.-283C>T | ENSP00000450652.1:n.-283C>T | |
| ENST00000556011.5:c.-301C>T | ENSP00000451662.1:n.-301C>T | |
| ENST00000556533.5:c.-248C>T | ENSP00000452128.1:n.-248C>T | |
| ENST00000556864.5:c.-358C>T | ENSP00000451588.1:n.-358C>T | |
| ENST00000556951.5:c.-255C>T | ENSP00000450551.1:n.-255C>T | |
| ENST00000557293.5:c.-255C>T | ENSP00000451880.1:n.-255C>T | |
| ENST00000557356.5:c.-136+12C>T | ENSP00000451498.1:n.-136+12C>T | |
| ENST00000560005.6:c.-361C>T | ENSP00000453466.1:n.-361C>T | |
| NM_000021.3:c.-259C>T | NP_000012.1:n.-259C>T | |
| NM_007318.2:c.-259C>T | NP_015557.2:n.-259C>T | |
| XM_005267864.1:c.-255C>T | XP_005267921.1:n.-255C>T | |
| XM_005267866.1:c.-255C>T | XP_005267923.1:n.-255C>T | |
| XM_005267864.3:c.-255C>T | XP_005267921.1:n.-255C>T | |
| XM_005267866.2:c.-255C>T | XP_005267923.1:n.-255C>T |