Linked Data
dbSNP Id:
rs200021845
ExAC:
4:178363576 C / T
gnomAD v2:
4-178363576-C-T
gnomAD v3:
4-177442422-C-T
gnomAD v4:
4-177442422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442422C>T , CM000666.2:g.177442422C>T | GRCh38 |
| NC_000004.11:g.178363576C>T , CM000666.1:g.178363576C>T | GRCh37 |
| NC_000004.10:g.178600570C>T | NCBI36 |
| NG_011845.2:g.5082G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-47G>A MANE Select | ENSP00000264595.2:n.-47G>A | |
| ENST00000264595.6:c.-47G>A | ENSP00000264595.2:n.-47G>A | |
| NM_000027.3:c.-47G>A | NP_000018.2:n.-47G>A | |
| NM_001171988.1:c.-47G>A | NP_001165459.1:n.-47G>A | |
| NR_033655.1:n.82G>A | ||
| XM_006714123.2:c.-47G>A | XP_006714186.1:n.-47G>A | |
| XR_001741155.2:n.48G>A | ||
| NM_000027.4:c.-47G>A MANE Select | NP_000018.2:n.-47G>A | |
| NM_001171988.2:c.-47G>A | NP_001165459.1:n.-47G>A | |
| NR_033655.2:n.16G>A |