Linked Data
ClinVar Variation Id:
1495000
dbSNP Id:
rs142182110
ExAC:
16:87936072 C / A
gnomAD v2:
16-87936072-C-A
gnomAD v3:
16-87902466-C-A
gnomAD v4:
16-87902466-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902466C>A , CM000678.2:g.87902466C>A | GRCh38 |
| NC_000016.9:g.87936072C>A , CM000678.1:g.87936072C>A | GRCh37 |
| NC_000016.8:g.86493573C>A | NCBI36 |
| NG_033227.1:g.39041G>T | |
| NG_033227.2:g.39064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.514G>T | ENSP00000497934.1:p.Val172Leu | |
| ENST00000648177.1:c.395G>T | ENSP00000497626.1:p.Arg132Leu | |
| ENST00000649158.1:c.514G>T | ENSP00000496993.1:p.Val172Leu | |
| ENST00000649794.3:c.514G>T MANE Select | ENSP00000498065.2:p.Val172Leu | |
| ENST00000309893.3:c.514G>T | ENSP00000309649.2:p.Val172Leu | |
| NM_001739.1:c.514G>T | NP_001730.1:p.Val172Leu | |
| XM_011523309.1:c.514G>T | XP_011521611.1:p.Val172Leu | |
| XM_011523310.1:c.514G>T | XP_011521612.1:p.Val172Leu | |
| XR_933417.1:n.633G>T | ||
| NM_001739.2:c.514G>T MANE Select | NP_001730.1:p.Val172Leu | |
| XM_011523309.2:c.514G>T | XP_011521611.1:p.Val172Leu | |
| XM_017023646.1:c.514G>T | XP_016879135.1:p.Val172Leu | |
| XM_024450434.1:c.136G>T | XP_024306202.1:p.Val46Leu | |
| XR_002957839.1:n.639G>T | ||
| NM_001367225.1:c.514G>T | NP_001354154.1:p.Val172Leu | |
| NR_159798.1:n.593G>T | ||
| NR_159799.1:n.474G>T |