Linked Data
ClinVar Variation Id:
452544
ClinVar RCV Id:
RCV000522853
dbSNP Id:
rs1557026069
gnomAD v4:
X-153592625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592625C>T , CM000685.2:g.153592625C>T | GRCh38 |
| NC_000023.10:g.152858083C>T , CM000685.1:g.152858083C>T | GRCh37 |
| NC_000023.9:g.152511277C>T | NCBI36 |
| NG_008393.2:g.11553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.538G>A MANE Select | ENSP00000461135.1:p.Gly180Arg | |
| ENST00000429336.5:c.193+1922G>A | ||
| ENST00000440428.5:c.538G>A | ENSP00000402949.2:p.Gly180Arg | |
| ENST00000482182.3:c.412G>A | ENSP00000466345.1:p.Gly138Arg | |
| ENST00000576892.7:c.538G>A | ENSP00000461135.1:p.Gly180Arg | |
| ENST00000614850.1:c.277+3379G>A | ||
| ENST00000614851.4:c.359G>A | ||
| ENST00000620088.4:c.*414G>A | ENSP00000484108.1:n.*414G>A | |
| ENST00000621629.4:c.*414G>A | ENSP00000478747.1:n.*414G>A | |
| ENST00000621817.1:c.*703G>A | ENSP00000481634.1:n.*703G>A | |
| NM_001130997.2:c.538G>A | NP_001124469.1:p.Gly180Arg | |
| NM_152274.4:c.538G>A | NP_689487.2:p.Gly180Arg | |
| XM_005277920.3:c.508G>A | XP_005277977.1:p.Gly170Arg | |
| XM_005277921.3:c.508G>A | XP_005277978.1:p.Gly170Arg | |
| XM_011531213.1:c.412G>A | XP_011529515.1:p.Gly138Arg | |
| XM_011531214.1:c.412G>A | XP_011529516.1:p.Gly138Arg | |
| XM_011531215.1:c.412G>A | XP_011529517.1:p.Gly138Arg | |
| XM_005277920.4:c.508G>A | XP_005277977.1:p.Gly170Arg | |
| XM_005277921.4:c.508G>A | XP_005277978.1:p.Gly170Arg | |
| XM_011531214.2:c.412G>A | XP_011529516.1:p.Gly138Arg | |
| XM_011531215.2:c.412G>A | XP_011529517.1:p.Gly138Arg | |
| XR_002958810.1:n.2443G>A | ||
| NM_152274.5:c.538G>A MANE Select | NP_689487.2:p.Gly180Arg | |
| NM_001130997.3:c.538G>A | NP_001124469.1:p.Gly180Arg |