Linked Data
dbSNP Id:
rs113467921
ExAC:
X:133632511 C / T
gnomAD v2:
X-133632511-C-T
gnomAD v3:
X-134498481-C-T
gnomAD v4:
X-134498481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134498481C>T , CM000685.2:g.134498481C>T | GRCh38 |
| NC_000023.10:g.133632511C>T , CM000685.1:g.133632511C>T | GRCh37 |
| NC_000023.9:g.133460177C>T | NCBI36 |
| NG_012329.1:g.43337C>T | |
| NG_012329.2:g.43337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.532+45C>T MANE Select | ENSP00000298556.7:n.532+45C>T | |
| ENST00000298556.7:c.532+45C>T | ENSP00000298556.7:n.532+45C>T | |
| ENST00000462974.5:n.690+45C>T | ||
| ENST00000475720.1:n.490+45C>T | ||
| NM_000194.2:c.532+45C>T | NP_000185.1:n.532+45C>T | |
| XM_011531328.1:c.550+45C>T | XP_011529630.1:n.550+45C>T | |
| NM_000194.3:c.532+45C>T MANE Select | NP_000185.1:n.532+45C>T |