Linked Data
dbSNP Id:
rs782309279
ExAC:
X:152858098 G / A
gnomAD v2:
X-152858098-G-A
gnomAD v4:
X-153592640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592640G>A , CM000685.2:g.153592640G>A | GRCh38 |
| NC_000023.10:g.152858098G>A , CM000685.1:g.152858098G>A | GRCh37 |
| NC_000023.9:g.152511292G>A | NCBI36 |
| NG_008393.2:g.11538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.523C>T MANE Select | ENSP00000461135.1:p.Arg175Trp | |
| ENST00000429336.5:c.193+1907C>T | ||
| ENST00000440428.5:c.523C>T | ENSP00000402949.2:p.Arg175Trp | |
| ENST00000482182.3:c.397C>T | ENSP00000466345.1:p.Arg133Trp | |
| ENST00000576892.7:c.523C>T | ENSP00000461135.1:p.Arg175Trp | |
| ENST00000614850.1:c.277+3364C>T | ||
| ENST00000614851.4:c.344C>T | ||
| ENST00000620088.4:c.*399C>T | ENSP00000484108.1:n.*399C>T | |
| ENST00000621629.4:c.*399C>T | ENSP00000478747.1:n.*399C>T | |
| ENST00000621817.1:c.*688C>T | ENSP00000481634.1:n.*688C>T | |
| NM_001130997.2:c.523C>T | NP_001124469.1:p.Arg175Trp | |
| NM_152274.4:c.523C>T | NP_689487.2:p.Arg175Trp | |
| XM_005277920.3:c.493C>T | XP_005277977.1:p.Arg165Trp | |
| XM_005277921.3:c.493C>T | XP_005277978.1:p.Arg165Trp | |
| XM_011531213.1:c.397C>T | XP_011529515.1:p.Arg133Trp | |
| XM_011531214.1:c.397C>T | XP_011529516.1:p.Arg133Trp | |
| XM_011531215.1:c.397C>T | XP_011529517.1:p.Arg133Trp | |
| XM_005277920.4:c.493C>T | XP_005277977.1:p.Arg165Trp | |
| XM_005277921.4:c.493C>T | XP_005277978.1:p.Arg165Trp | |
| XM_011531214.2:c.397C>T | XP_011529516.1:p.Arg133Trp | |
| XM_011531215.2:c.397C>T | XP_011529517.1:p.Arg133Trp | |
| XR_002958810.1:n.2428C>T | ||
| NM_152274.5:c.523C>T MANE Select | NP_689487.2:p.Arg175Trp | |
| NM_001130997.3:c.523C>T | NP_001124469.1:p.Arg175Trp |