Linked Data
ClinVar Variation Id:
3538
ClinVar RCV Id:
RCV000003716
dbSNP Id:
rs121434288
gnomAD v4:
8-144413288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144413288C>T , CM000670.2:g.144413288C>T | GRCh38 |
| NC_000008.10:g.145638672C>T , CM000670.1:g.145638672C>T | GRCh37 |
| NC_000008.9:g.145609480C>T | NCBI36 |
| NG_012234.2:g.8603G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301305.8:c.1576G>A MANE Select | ENSP00000301305.4:p.Gly526Arg | |
| ENST00000276833.9:c.1501G>A | ENSP00000276833.5:p.Gly501Arg | |
| ENST00000301305.7:c.1576G>A | ENSP00000301305.3:p.Gly526Arg | |
| ENST00000527148.5:n.161G>A | ||
| ENST00000529462.5:n.175G>A | ||
| ENST00000530807.5:n.57+225G>A | ||
| ENST00000531013.1:n.304G>A | ||
| ENST00000532718.5:n.176G>A | ||
| NM_001280557.1:c.82G>A | NP_001267486.1:p.Gly28Arg | |
| NM_017767.2:c.1501G>A | NP_060237.2:p.Gly501Arg | |
| NM_130849.3:c.1576G>A | NP_570901.2:p.Gly526Arg | |
| XM_006716599.1:c.1474+225G>A | XP_006716662.1:n.1474+225G>A | |
| XM_011517153.1:c.1294G>A | XP_011515455.1:p.Gly432Arg | |
| XM_024447188.1:c.1294G>A | XP_024302956.1:p.Gly432Arg | |
| XM_024447189.1:c.1192+225G>A | XP_024302957.1:n.1192+225G>A | |
| NM_001280557.2:c.82G>A | NP_001267486.1:p.Gly28Arg | |
| NM_001374839.1:c.1294G>A | NP_001361768.1:p.Gly432Arg | |
| NM_017767.3:c.1501G>A | NP_060237.3:p.Gly501Arg | |
| NM_130849.4:c.1576G>A MANE Select | NP_570901.3:p.Gly526Arg |