Linked Data
ClinVar Variation Id:
475208
dbSNP Id:
rs201096097
ExAC:
5:138858039 C / A
gnomAD v2:
5-138858039-C-A
gnomAD v3:
5-139478454-C-A
gnomAD v4:
5-139478454-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139478454C>A , CM000667.2:g.139478454C>A | GRCh38 |
| NC_000005.9:g.138858039C>A , CM000667.1:g.138858039C>A | GRCh37 |
| NC_000005.8:g.138838223C>A | NCBI36 |
| NG_034249.1:g.9337G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330794.9:c.575G>T MANE Select | ENSP00000331288.4:p.Gly192Val | |
| ENST00000502362.2:n.1350G>T | ||
| ENST00000510817.2:c.575G>T | ENSP00000427455.2:p.Gly192Val | |
| ENST00000511886.6:n.1517G>T | ||
| ENST00000512606.6:n.811G>T | ||
| ENST00000514119.6:n.794G>T | ||
| ENST00000650883.1:c.271G>T | ENSP00000499142.1:p.Val91Leu | |
| ENST00000651565.1:c.218G>T | ENSP00000498768.1:p.Gly73Val | |
| ENST00000651699.1:c.575G>T | ENSP00000499166.1:p.Gly192Val | |
| ENST00000652110.1:c.575G>T | ENSP00000498513.1:p.Gly192Val | |
| ENST00000652271.1:c.575G>T | ENSP00000498596.1:p.Gly192Val | |
| ENST00000652293.1:n.1383G>T | ||
| ENST00000652543.1:c.218G>T | ENSP00000498683.1:p.Gly73Val | |
| ENST00000652640.1:n.1149G>T | ||
| ENST00000330794.8:c.575G>T | ENSP00000331288.4:p.Gly192Val | |
| ENST00000502825.1:n.353G>T | ||
| ENST00000503287.5:n.467G>T | ||
| ENST00000507297.5:n.1908G>T | ||
| ENST00000509573.5:n.374G>T | ||
| ENST00000510817.1:c.575G>T | ENSP00000427455.1:p.Gly192Val | |
| ENST00000511886.5:n.581G>T | ||
| ENST00000512606.5:n.500G>T | ||
| ENST00000514119.5:n.1012G>T | ||
| ENST00000515507.5:n.621G>T | ||
| NM_001301738.1:c.575G>T | NP_001288667.1:p.Gly192Val | |
| NM_198282.3:c.575G>T | NP_938023.1:p.Gly192Val | |
| XM_005268445.2:c.575G>T | XP_005268502.1:p.Gly192Val | |
| XM_011537639.1:c.575G>T | XP_011535941.1:p.Gly192Val | |
| XM_011537640.1:c.218G>T | XP_011535942.1:p.Gly73Val | |
| XM_005268445.4:c.575G>T | XP_005268502.1:p.Gly192Val | |
| XM_011537639.3:c.575G>T | XP_011535941.1:p.Gly192Val | |
| XM_011537640.2:c.218G>T | XP_011535942.1:p.Gly73Val | |
| NM_001301738.2:c.575G>T | NP_001288667.1:p.Gly192Val | |
| NM_001367258.1:c.218G>T | NP_001354187.1:p.Gly73Val | |
| NM_198282.4:c.575G>T MANE Select | NP_938023.1:p.Gly192Val |