Linked Data
dbSNP Id:
rs782060232
ExAC:
X:50653744 C / T
gnomAD v2:
X-50653744-C-T
gnomAD v4:
X-50910744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910744C>T , CM000685.2:g.50910744C>T | GRCh38 |
| NC_000023.10:g.50653744C>T , CM000685.1:g.50653744C>T | GRCh37 |
| NC_000023.9:g.50670484C>T | NCBI36 |
| NG_012894.1:g.4961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.-40C>T MANE Select | ENSP00000252677.3:n.-40C>T | |
| NM_005448.2:c.-40C>T MANE Select | NP_005439.2:n.-40C>T |