Linked Data
ClinVar Variation Id:
183295
ClinVar RCV Id:
RCV000162116
dbSNP Id:
rs730882210
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45304356C>G , CM000682.2:g.45304356C>G | GRCh38 |
| NC_000020.10:g.43932996C>G , CM000682.1:g.43932996C>G | GRCh37 |
| NC_000020.9:g.43366410C>G | NCBI36 |
| NG_033953.1:g.9174G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372756.6:c.515G>C MANE Select | ENSP00000361842.1:p.Gly172Ala | |
| ENST00000686119.1:c.*322G>C | ENSP00000510496.1:n.*322G>C | |
| ENST00000353917.10:c.515G>C | ENSP00000243983.5:p.Gly172Ala | |
| ENST00000537548.3:c.515G>C | ENSP00000440328.1:p.Gly172Ala | |
| ENST00000353917.9:c.515G>C | ENSP00000243983.5:p.Gly172Ala | |
| ENST00000360607.10:c.515G>C | ENSP00000353819.5:p.Gly172Ala | |
| ENST00000372754.5:c.515G>C | ENSP00000361840.1:p.Gly172Ala | |
| ENST00000372756.5:c.515G>C | ENSP00000361842.1:p.Gly172Ala | |
| ENST00000537548.2:c.515G>C | ENSP00000440328.1:p.Gly172Ala | |
| NM_003833.4:c.515G>C | NP_003824.2:p.Gly172Ala | |
| NM_030590.3:c.515G>C | NP_085080.1:p.Gly172Ala | |
| NM_030592.3:c.515G>C | NP_085095.1:p.Gly172Ala | |
| XM_005260597.1:c.515G>C | XP_005260654.1:p.Gly172Ala | |
| XM_017028113.1:c.515G>C | XP_016883602.1:p.Gly172Ala | |
| XM_017028114.1:c.515G>C | XP_016883603.1:p.Gly172Ala | |
| XM_017028115.1:c.515G>C | XP_016883604.1:p.Gly172Ala | |
| NM_030590.4:c.515G>C | NP_085080.1:p.Gly172Ala | |
| NM_001393530.1:c.515G>C MANE Select | NP_001380459.1:p.Gly172Ala | |
| NM_001393531.1:c.515G>C | NP_001380460.1:p.Gly172Ala | |
| NM_003833.5:c.515G>C | NP_003824.2:p.Gly172Ala | |
| NM_030592.4:c.515G>C | NP_085095.1:p.Gly172Ala |