Linked Data
dbSNP Id:
rs782011632
ExAC:
X:50653857 T / A
gnomAD v2:
X-50653857-T-A
gnomAD v3:
X-50910857-T-A
gnomAD v4:
X-50910857-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910857T>A , CM000685.2:g.50910857T>A | GRCh38 |
| NC_000023.10:g.50653857T>A , CM000685.1:g.50653857T>A | GRCh37 |
| NC_000023.9:g.50670597T>A | NCBI36 |
| NG_012894.1:g.5074T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.74T>A MANE Select | ENSP00000252677.3:p.Met25Lys | |
| ENST00000252677.3:c.74T>A | ENSP00000252677.3:p.Met25Lys | |
| NM_005448.2:c.74T>A MANE Select | NP_005439.2:p.Met25Lys |