Linked Data
dbSNP Id:
rs782149210
ExAC:
X:154194717 G / T
gnomAD v2:
X-154194717-G-T
gnomAD v4:
X-154966442-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966442G>T , CM000685.2:g.154966442G>T | GRCh38 |
| NC_000023.10:g.154194717G>T , CM000685.1:g.154194717G>T | GRCh37 |
| NC_000023.9:g.153847911G>T | NCBI36 |
| NG_011403.1:g.61282C>A | |
| NG_011403.2:g.61282C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1255C>A MANE Select | ENSP00000353393.4:p.Leu419Ile | |
| ENST00000647125.1:c.*1131C>A | ENSP00000496062.1:n.*1131C>A | |
| ENST00000360256.8:c.1255C>A | ENSP00000353393.4:p.Leu419Ile | |
| ENST00000483822.2:n.75C>A | ||
| NM_000132.3:c.1255C>A | NP_000123.1:p.Leu419Ile | |
| XM_011531126.1:c.1150C>A | XP_011529428.1:p.Leu384Ile | |
| NM_000132.4:c.1255C>A MANE Select | NP_000123.1:p.Leu419Ile |