Linked Data
dbSNP Id:
rs760870145
ExAC:
X:54521711 A / G
gnomAD v2:
X-54521711-A-G
gnomAD v4:
X-54495278-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495278A>G , CM000685.2:g.54495278A>G | GRCh38 |
| NC_000023.10:g.54521711A>G , CM000685.1:g.54521711A>G | GRCh37 |
| NC_000023.9:g.54538436A>G | NCBI36 |
| NG_008054.1:g.5889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.155T>C MANE Select | ENSP00000364277.3:p.Leu52Pro | |
| ENST00000375135.3:c.155T>C | ENSP00000364277.3:p.Leu52Pro | |
| NM_004463.2:c.155T>C | NP_004454.2:p.Leu52Pro | |
| NM_004463.3:c.155T>C MANE Select | NP_004454.2:p.Leu52Pro |