MyVariant.info:
GRCh37
chrX:g.15339849G>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321727G>T , CM000685.2:g.15321727G>T | GRCh38 |
| NC_000023.10:g.15339849G>T , CM000685.1:g.15339849G>T | GRCh37 |
| NC_000023.9:g.15249770G>T | NCBI36 |
| NG_009786.1:g.18812C>A , LRG_160:g.18812C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1234C>A MANE Select | ENSP00000369820.3:p.Arg412= | |
| ENST00000637296.1:c.289C>A | ENSP00000490545.1:p.Arg97= | |
| ENST00000637626.1:c.*715C>A | ENSP00000489928.1:n.*715C>A | |
| ENST00000638131.1:c.*495C>A | ENSP00000490483.1:n.*495C>A | |
| ENST00000333590.5:c.1234C>A | ENSP00000369820.3:p.Arg412= | |
| ENST00000463173.1:n.506C>A | ||
| ENST00000475746.1:c.127C>A | ENSP00000488970.1:p.Arg43= | |
| ENST00000482148.6:c.727C>A | ENSP00000489528.1:p.Arg243= | |
| ENST00000542278.6:c.1234C>A | ENSP00000442653.2:p.Arg412= | |
| ENST00000634582.1:c.532C>A | ENSP00000489540.1:p.Arg178= | |
| ENST00000634640.1:c.289C>A | ENSP00000489083.1:p.Arg97= | |
| ENST00000635045.1:n.1467C>A | ||
| ENST00000635598.1:c.*503C>A | ENSP00000489207.1:n.*503C>A | |
| ENST00000635631.1:n.575C>A | ||
| NM_002641.3:c.1234C>A , LRG_160t1:c.1234C>A | NP_002632.1:p.Arg412= | |
| NM_020473.3:c.532C>A | NP_065206.3:p.Arg178= | |
| NR_033835.1:n.976C>A | ||
| NR_033836.1:n.692C>A | ||
| XM_011545539.1:c.541C>A | XP_011543841.1:p.Arg181= | |
| XM_011545539.2:c.541C>A | XP_011543841.1:p.Arg181= | |
| NM_002641.4:c.1234C>A MANE Select | NP_002632.1:p.Arg412= |