Linked Data
ClinVar Variation Id:
1054883
ClinVar RCV Id:
RCV001363472
dbSNP Id:
rs2143950598
gnomAD v4:
16-87902468-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902468A>G , CM000678.2:g.87902468A>G | GRCh38 |
| NC_000016.9:g.87936074A>G , CM000678.1:g.87936074A>G | GRCh37 |
| NC_000016.8:g.86493575A>G | NCBI36 |
| NG_033227.1:g.39039T>C | |
| NG_033227.2:g.39062T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.512T>C | ENSP00000497934.1:p.Val171Ala | |
| ENST00000648177.1:c.393T>C | ENSP00000497626.1:p.Cys131= | |
| ENST00000649158.1:c.512T>C | ENSP00000496993.1:p.Val171Ala | |
| ENST00000649794.3:c.512T>C MANE Select | ENSP00000498065.2:p.Val171Ala | |
| ENST00000309893.3:c.512T>C | ENSP00000309649.2:p.Val171Ala | |
| NM_001739.1:c.512T>C | NP_001730.1:p.Val171Ala | |
| XM_011523309.1:c.512T>C | XP_011521611.1:p.Val171Ala | |
| XM_011523310.1:c.512T>C | XP_011521612.1:p.Val171Ala | |
| XR_933417.1:n.631T>C | ||
| NM_001739.2:c.512T>C MANE Select | NP_001730.1:p.Val171Ala | |
| XM_011523309.2:c.512T>C | XP_011521611.1:p.Val171Ala | |
| XM_017023646.1:c.512T>C | XP_016879135.1:p.Val171Ala | |
| XM_024450434.1:c.134T>C | XP_024306202.1:p.Val45Ala | |
| XR_002957839.1:n.637T>C | ||
| NM_001367225.1:c.512T>C | NP_001354154.1:p.Val171Ala | |
| NR_159798.1:n.591T>C | ||
| NR_159799.1:n.472T>C |