Linked Data
ClinVar Variation Id:
1169497
ClinVar RCV Id:
RCV001520835
dbSNP Id:
rs3790549
ExAC:
1:119575818 C / G
gnomAD v2:
1-119575818-C-G
gnomAD v3:
1-119033195-C-G
gnomAD v4:
1-119033195-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033195C>G , CM000663.2:g.119033195C>G | GRCh38 |
| NC_000001.10:g.119575818C>G , CM000663.1:g.119575818C>G | GRCh37 |
| NC_000001.9:g.119377341C>G | NCBI36 |
| NG_050658.1:g.112594G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.799G>C MANE Select | ENSP00000235521.4:p.Ala267Pro | |
| ENST00000235521.4:c.799G>C | ENSP00000235521.4:p.Ala267Pro | |
| ENST00000369426.9:c.*165G>C | ENSP00000358434.5:n.*165G>C | |
| NM_015836.3:c.799G>C | NP_056651.1:p.Ala267Pro | |
| NM_201263.2:c.*165G>C | NP_957715.1:n.*165G>C | |
| XM_005270350.2:c.745G>C | XP_005270407.1:p.Ala249Pro | |
| XM_006710283.1:c.517G>C | XP_006710346.1:p.Ala173Pro | |
| XM_011540493.1:c.730G>C | XP_011538795.1:p.Ala244Pro | |
| XM_011540494.1:c.730G>C | XP_011538796.1:p.Ala244Pro | |
| XM_011540495.1:c.541G>C | XP_011538797.1:p.Ala181Pro | |
| XM_005270350.3:c.745G>C | XP_005270407.1:p.Ala249Pro | |
| XM_011540494.2:c.730G>C | XP_011538796.1:p.Ala244Pro | |
| XM_011540495.2:c.541G>C | XP_011538797.1:p.Ala181Pro | |
| XM_017000038.1:c.742G>C | XP_016855527.1:p.Ala248Pro | |
| XM_017000039.1:c.730G>C | XP_016855528.1:p.Ala244Pro | |
| XM_017000040.1:c.628G>C | XP_016855529.1:p.Ala210Pro | |
| XM_017000041.2:c.460G>C | XP_016855530.1:p.Ala154Pro | |
| XM_017000042.1:c.*134G>C | XP_016855531.1:n.*134G>C | |
| XM_024449826.1:c.730G>C | XP_024305594.1:p.Ala244Pro | |
| XM_024449860.1:c.517G>C | XP_024305628.1:p.Ala173Pro | |
| XM_024449871.1:c.517G>C | XP_024305639.1:p.Ala173Pro | |
| NM_001378226.1:c.730G>C | NP_001365155.1:p.Ala244Pro | |
| NM_001378227.1:c.730G>C | NP_001365156.1:p.Ala244Pro | |
| NM_001378228.1:c.628G>C | NP_001365157.1:p.Ala210Pro | |
| NM_001378229.1:c.541G>C | NP_001365158.1:p.Ala181Pro | |
| NM_001378230.1:c.517G>C | NP_001365159.1:p.Ala173Pro | |
| NM_001378231.1:c.*134G>C | NP_001365160.1:n.*134G>C | |
| NM_015836.4:c.799G>C MANE Select | NP_056651.1:p.Ala267Pro |