Linked Data
dbSNP Id:
rs782621007
ExAC:
X:50658821 T / C
gnomAD v2:
X-50658821-T-C
gnomAD v4:
X-50915821-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915821T>C , CM000685.2:g.50915821T>C | GRCh38 |
| NC_000023.10:g.50658821T>C , CM000685.1:g.50658821T>C | GRCh37 |
| NC_000023.9:g.50675561T>C | NCBI36 |
| NG_012894.1:g.10038T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.393T>C MANE Select | ENSP00000252677.3:p.Val131= | |
| ENST00000252677.3:c.393T>C | ENSP00000252677.3:p.Val131= | |
| NM_005448.2:c.393T>C MANE Select | NP_005439.2:p.Val131= |