Linked Data
ClinVar Variation Id:
1574003
ClinVar RCV Id:
RCV002080399
dbSNP Id:
rs781829925
ExAC:
X:152858039 C / T
gnomAD v2:
X-152858039-C-T
gnomAD v3:
X-153592581-C-T
gnomAD v4:
X-153592581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592581C>T , CM000685.2:g.153592581C>T | GRCh38 |
| NC_000023.10:g.152858039C>T , CM000685.1:g.152858039C>T | GRCh37 |
| NC_000023.9:g.152511233C>T | NCBI36 |
| NG_008393.2:g.11597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.582G>A MANE Select | ENSP00000461135.1:p.Ala194= | |
| ENST00000429336.5:c.193+1966G>A | ||
| ENST00000440428.5:c.582G>A | ENSP00000402949.2:p.Ala194= | |
| ENST00000576892.7:c.582G>A | ENSP00000461135.1:p.Ala194= | |
| ENST00000614850.1:c.277+3423G>A | ||
| ENST00000614851.4:c.403G>A | ||
| ENST00000620088.4:c.*458G>A | ENSP00000484108.1:n.*458G>A | |
| ENST00000621629.4:c.*458G>A | ENSP00000478747.1:n.*458G>A | |
| ENST00000621817.1:c.*747G>A | ENSP00000481634.1:n.*747G>A | |
| NM_001130997.2:c.582G>A | NP_001124469.1:p.Ala194= | |
| NM_152274.4:c.582G>A | NP_689487.2:p.Ala194= | |
| XM_005277920.3:c.552G>A | XP_005277977.1:p.Ala184= | |
| XM_005277921.3:c.552G>A | XP_005277978.1:p.Ala184= | |
| XM_011531213.1:c.456G>A | XP_011529515.1:p.Ala152= | |
| XM_011531214.1:c.456G>A | XP_011529516.1:p.Ala152= | |
| XM_011531215.1:c.456G>A | XP_011529517.1:p.Ala152= | |
| XM_005277920.4:c.552G>A | XP_005277977.1:p.Ala184= | |
| XM_005277921.4:c.552G>A | XP_005277978.1:p.Ala184= | |
| XM_011531214.2:c.456G>A | XP_011529516.1:p.Ala152= | |
| XM_011531215.2:c.456G>A | XP_011529517.1:p.Ala152= | |
| XR_002958810.1:n.2487G>A | ||
| NM_152274.5:c.582G>A MANE Select | NP_689487.2:p.Ala194= | |
| NM_001130997.3:c.582G>A | NP_001124469.1:p.Ala194= |