Linked Data
ClinVar Variation Id:
1062638
ClinVar RCV Id:
RCV001372375
dbSNP Id:
rs2131887129
gnomAD v4:
9-130471496-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130471496G>C , CM000671.2:g.130471496G>C | GRCh38 |
| NC_000009.11:g.133346883G>C , CM000671.1:g.133346883G>C | GRCh37 |
| NC_000009.10:g.132336704G>C | NCBI36 |
| NG_011542.1:g.31790G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.578G>C MANE Select | ENSP00000253004.6:p.Gly193Ala | |
| ENST00000352480.9:c.578G>C | ENSP00000253004.6:p.Gly193Ala | |
| ENST00000372393.7:c.578G>C | ENSP00000361469.2:p.Gly193Ala | |
| ENST00000372394.5:c.578G>C | ENSP00000361471.1:p.Gly193Ala | |
| ENST00000422569.5:c.578G>C | ENSP00000394212.1:p.Gly193Ala | |
| ENST00000443588.1:c.521G>C | ENSP00000397785.1:p.Gly174Ala | |
| ENST00000467695.5:n.287G>C | ||
| ENST00000493984.6:n.409G>C | ||
| NM_000050.4:c.578G>C | NP_000041.2:p.Gly193Ala | |
| NM_054012.3:c.578G>C | NP_446464.1:p.Gly193Ala | |
| XM_005272200.2:c.578G>C | XP_005272257.1:p.Gly193Ala | |
| XM_011518705.1:c.692G>C | XP_011517007.1:p.Gly231Ala | |
| XM_005272200.3:c.578G>C | XP_005272257.1:p.Gly193Ala | |
| XM_011518705.2:c.692G>C | XP_011517007.1:p.Gly231Ala | |
| XM_017014729.1:c.674G>C | XP_016870218.1:p.Gly225Ala | |
| NM_054012.4:c.578G>C MANE Select | NP_446464.1:p.Gly193Ala |