Linked Data
dbSNP Id:
rs11096990
gnomAD v2:
4-39286949-C-T
gnomAD v3:
4-39285329-C-T
gnomAD v4:
4-39285329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39285329C>T , CM000666.2:g.39285329C>T | GRCh38 |
| NC_000004.11:g.39286949C>T , CM000666.1:g.39286949C>T | GRCh37 |
| NC_000004.10:g.38963344C>T | NCBI36 |
| NG_031813.1:g.107926C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399820.8:c.*14-158C>T MANE Select | ENSP00000382717.3:n.*14-158C>T | |
| ENST00000399820.7:c.*14-158C>T | ENSP00000382717.3:n.*14-158C>T | |
| ENST00000503733.1:n.398-158C>T | ||
| ENST00000506869.5:c.*3624-158C>T | ENSP00000424319.1:n.*3624-158C>T | |
| ENST00000510315.1:n.394-158C>T | ||
| ENST00000512534.5:n.2354-158C>T | ||
| ENST00000512588.5:n.385-158C>T | ||
| NM_025132.3:c.*14-158C>T | NP_079408.3:n.*14-158C>T | |
| XM_011513724.1:c.*14-158C>T | XP_011512026.1:n.*14-158C>T | |
| XM_011513725.1:c.*14-158C>T | XP_011512027.1:n.*14-158C>T | |
| XM_011513726.1:c.*14-158C>T | XP_011512028.1:n.*14-158C>T | |
| XM_011513727.1:c.*14-158C>T | XP_011512029.1:n.*14-158C>T | |
| XM_011513728.1:c.*14-158C>T | XP_011512030.1:n.*14-158C>T | |
| XR_925155.1:n.5753-158C>T | ||
| NM_001317924.1:c.*14-158C>T | NP_001304853.1:n.*14-158C>T | |
| XM_011513725.2:c.*14-158C>T | XP_011512027.1:n.*14-158C>T | |
| XM_011513726.3:c.*14-158C>T | XP_011512028.1:n.*14-158C>T | |
| XM_017008501.1:c.*14-158C>T | XP_016863990.1:n.*14-158C>T | |
| XR_001741306.1:n.4320-158C>T | ||
| XR_001741307.1:n.4308-158C>T | ||
| XR_001741308.1:n.5954-158C>T | ||
| XR_001741309.1:n.5741-158C>T | ||
| XR_001741310.1:n.5942-158C>T | ||
| XR_001741311.2:n.5590-158C>T | ||
| NM_025132.4:c.*14-158C>T MANE Select | NP_079408.3:n.*14-158C>T | |
| NM_001317924.2:c.*14-158C>T | NP_001304853.1:n.*14-158C>T |