Linked Data
ClinVar Variation Id:
282994
dbSNP Id:
rs115169993
ExAC:
1:162741822 G / A
gnomAD v2:
1-162741822-G-A
gnomAD v3:
1-162772032-G-A
gnomAD v4:
1-162772032-G-A
CIViC:
CA1217584
PubMed:
PMID:22328973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162772032G>A , CM000663.2:g.162772032G>A | GRCh38 |
| NC_000001.10:g.162741822G>A , CM000663.1:g.162741822G>A | GRCh37 |
| NC_000001.9:g.161008446G>A | NCBI36 |
| NG_016290.1:g.144595G>A | |
| NG_016290.2:g.145820G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367921.8:c.1513G>A MANE Select | ENSP00000356898.3:p.Gly505Ser | |
| ENST00000446985.6:c.1513G>A | ENSP00000400309.2:p.Gly505Ser | |
| ENST00000367921.7:c.1513G>A | ENSP00000356898.3:p.Gly505Ser | |
| ENST00000367922.7:c.1513G>A | ENSP00000356899.2:p.Gly505Ser | |
| ENST00000433757.1:c.290G>A | ||
| NM_001014796.1:c.1513G>A | NP_001014796.1:p.Gly505Ser | |
| NM_006182.2:c.1513G>A | NP_006173.2:p.Gly505Ser | |
| XM_006711344.2:c.1513G>A | XP_006711407.1:p.Gly505Ser | |
| XM_011509586.1:c.1513G>A | XP_011507888.1:p.Gly505Ser | |
| XM_011509587.1:c.1513G>A | XP_011507889.1:p.Gly505Ser | |
| NM_001014796.2:c.1513G>A | NP_001014796.1:p.Gly505Ser | |
| NM_001354982.1:c.1513G>A | NP_001341911.1:p.Gly505Ser | |
| NM_001354983.1:c.1513G>A | NP_001341912.1:p.Gly505Ser | |
| NM_006182.3:c.1513G>A | NP_006173.2:p.Gly505Ser | |
| XM_011509587.2:c.1513G>A | XP_011507889.1:p.Gly505Ser | |
| NM_006182.4:c.1513G>A MANE Select | NP_006173.2:p.Gly505Ser | |
| NM_001014796.3:c.1513G>A | NP_001014796.1:p.Gly505Ser | |
| NM_001354982.2:c.1513G>A | NP_001341911.1:p.Gly505Ser | |
| NM_001354983.2:c.1513G>A | NP_001341912.1:p.Gly505Ser |