Linked Data
dbSNP Id:
rs201202696
ExAC:
X:115303714 G / T
gnomAD v2:
X-115303714-G-T
gnomAD v4:
X-116172461-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172461G>T , CM000685.2:g.116172461G>T | GRCh38 |
| NC_000023.10:g.115303714G>T , CM000685.1:g.115303714G>T | GRCh37 |
| NC_000023.9:g.115217742G>T | NCBI36 |
| NG_016326.1:g.6757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.181G>T MANE Select | ENSP00000360973.4:p.Val61Phe | |
| ENST00000680409.1:n.649G>T | ||
| ENST00000681852.1:c.181G>T | ENSP00000505750.1:p.Val61Phe | |
| ENST00000371906.4:c.181G>T | ENSP00000360973.4:p.Val61Phe | |
| NM_000686.4:c.181G>T | NP_000677.2:p.Val61Phe | |
| XM_011537533.1:c.181G>T | XP_011535835.1:p.Val61Phe | |
| NM_000686.5:c.181G>T MANE Select | NP_000677.2:p.Val61Phe | |
| NM_001385624.1:c.181G>T | NP_001372553.1:p.Val61Phe |