Linked Data
ClinVar Variation Id:
447666
dbSNP Id:
rs200574556
ExAC:
12:49425023 C / T
gnomAD v2:
12-49425023-C-T
gnomAD v3:
12-49031240-C-T
gnomAD v4:
12-49031240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49031240C>T , CM000674.2:g.49031240C>T | GRCh38 |
| NC_000012.11:g.49425023C>T , CM000674.1:g.49425023C>T | GRCh37 |
| NC_000012.10:g.47711290C>T | NCBI36 |
| NG_027827.1:g.29085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.165G>A | ||
| ENST00000683543.2:c.13465G>A | ENSP00000506726.1:p.Gly4489Arg | |
| ENST00000685166.1:c.13474G>A | ENSP00000509386.1:p.Gly4492Arg | |
| ENST00000685554.1:c.1825G>A | ENSP00000508640.1:p.Gly609Arg | |
| ENST00000685982.1:c.73G>A | ENSP00000508613.1:p.Gly25Arg | |
| ENST00000691986.1:c.73G>A | ENSP00000509196.1:p.Gly25Arg | |
| ENST00000692637.1:c.13462G>A | ENSP00000509666.1:p.Gly4488Arg | |
| ENST00000692841.1:c.4944G>A | ENSP00000508711.1:n.4944G>A | |
| ENST00000692973.1:c.73G>A | ENSP00000508893.1:p.Gly25Arg | |
| ENST00000301067.12:c.13465G>A MANE Select | ENSP00000301067.7:p.Gly4489Arg | |
| ENST00000301067.11:c.13465G>A | ENSP00000301067.7:p.Gly4489Arg | |
| ENST00000552391.1:n.165G>A | ||
| NM_003482.3:c.13465G>A | NP_003473.3:p.Gly4489Arg | |
| XM_005269162.3:c.13465G>A | XP_005269219.1:p.Gly4489Arg | |
| XM_006719614.2:c.13474G>A | XP_006719677.1:p.Gly4492Arg | |
| XM_006719616.2:c.13462G>A | XP_006719679.1:p.Gly4488Arg | |
| XM_011538770.1:c.13474G>A | XP_011537072.1:p.Gly4492Arg | |
| XM_011538771.1:c.13471G>A | XP_011537073.1:p.Gly4491Arg | |
| XM_011538772.1:c.13465G>A | XP_011537074.1:p.Gly4489Arg | |
| XM_011538773.1:c.13462G>A | XP_011537075.1:p.Gly4488Arg | |
| XM_011538774.1:c.13453G>A | XP_011537076.1:p.Gly4485Arg | |
| XM_011538775.1:c.13474G>A | XP_011537077.1:p.Gly4492Arg | |
| XM_011538776.1:c.13381G>A | XP_011537078.1:p.Gly4461Arg | |
| XR_944740.1:n.15794G>A | ||
| XM_005269162.4:c.13465G>A | XP_005269219.1:p.Gly4489Arg | |
| XM_006719614.4:c.13474G>A | XP_006719677.1:p.Gly4492Arg | |
| XM_006719616.3:c.13462G>A | XP_006719679.1:p.Gly4488Arg | |
| XM_011538770.2:c.13474G>A | XP_011537072.1:p.Gly4492Arg | |
| XM_011538771.2:c.13471G>A | XP_011537073.1:p.Gly4491Arg | |
| XM_011538772.2:c.13465G>A | XP_011537074.1:p.Gly4489Arg | |
| XM_011538773.2:c.13462G>A | XP_011537075.1:p.Gly4488Arg | |
| XM_011538774.2:c.13453G>A | XP_011537076.1:p.Gly4485Arg | |
| XM_011538776.2:c.13381G>A | XP_011537078.1:p.Gly4461Arg | |
| XR_001748874.1:n.14783G>A | ||
| NM_003482.4:c.13465G>A MANE Select | NP_003473.3:p.Gly4489Arg |