Linked Data
dbSNP Id:
rs782474336
ExAC:
X:50658814 A / C
gnomAD v2:
X-50658814-A-C
gnomAD v4:
X-50915814-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915814A>C , CM000685.2:g.50915814A>C | GRCh38 |
| NC_000023.10:g.50658814A>C , CM000685.1:g.50658814A>C | GRCh37 |
| NC_000023.9:g.50675554A>C | NCBI36 |
| NG_012894.1:g.10031A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.386A>C MANE Select | ENSP00000252677.3:p.Gln129Pro | |
| ENST00000252677.3:c.386A>C | ENSP00000252677.3:p.Gln129Pro | |
| NM_005448.2:c.386A>C MANE Select | NP_005439.2:p.Gln129Pro |