Linked Data
dbSNP Id:
rs1179546441
gnomAD v2:
12-121570865-G-T
gnomAD v3:
12-121133062-G-T
gnomAD v4:
12-121133062-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121133062G>T , CM000674.2:g.121133062G>T | GRCh38 |
| NC_000012.11:g.121570865G>T , CM000674.1:g.121570865G>T | GRCh37 |
| NC_000012.10:g.120055248G>T | NCBI36 |
| NG_011471.2:g.5188G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.92G>T MANE Select | ENSP00000330696.6:p.Trp31Leu | |
| ENST00000261826.10:c.92G>T | ENSP00000261826.6:p.Trp31Leu | |
| ENST00000328963.9:c.92G>T | ENSP00000330696.6:p.Trp31Leu | |
| ENST00000535250.5:c.92G>T | ENSP00000442572.2:p.Trp31Leu | |
| ENST00000535600.2:c.92G>T | ENSP00000442470.1:p.Trp31Leu | |
| ENST00000535928.5:c.92G>T | ENSP00000439961.1:p.Trp31Leu | |
| ENST00000537312.5:c.92G>T | ENSP00000438586.1:p.Trp31Leu | |
| ENST00000538011.5:c.92G>T | ENSP00000439247.1:p.Trp31Leu | |
| ENST00000539606.5:c.92G>T | ENSP00000445325.1:p.Trp31Leu | |
| ENST00000539695.5:n.161G>T | ||
| ENST00000541022.5:c.92G>T | ENSP00000441230.1:p.Trp31Leu | |
| ENST00000541564.5:c.92G>T | ENSP00000443640.1:p.Trp31Leu | |
| ENST00000541716.5:c.92G>T | ENSP00000437729.1:p.Trp31Leu | |
| ENST00000545434.5:c.92G>T | ENSP00000445564.1:p.Trp31Leu | |
| NM_002562.5:c.92G>T | NP_002553.3:p.Trp31Leu | |
| NR_033948.1:n.235G>T | ||
| NR_033949.1:n.235G>T | ||
| NR_033950.1:n.235G>T | ||
| NR_033951.1:n.235G>T | ||
| NR_033952.1:n.235G>T | ||
| NR_033953.1:n.244G>T | ||
| NR_033954.1:n.235G>T | ||
| NR_033955.1:n.235G>T | ||
| NR_033956.1:n.235G>T | ||
| XM_011538418.1:c.92G>T | XP_011536720.1:p.Trp31Leu | |
| XM_011538419.1:c.-52G>T | XP_011536721.1:n.-52G>T | |
| XM_011538420.1:c.-470G>T | XP_011536722.1:n.-470G>T | |
| XM_011538419.3:c.-52G>T | XP_011536721.1:n.-52G>T | |
| XM_011538420.3:c.-470G>T | XP_011536722.1:n.-470G>T | |
| XM_017019364.2:c.-422G>T | XP_016874853.1:n.-422G>T | |
| XM_017019365.2:c.-253G>T | XP_016874854.1:n.-253G>T | |
| XM_017019366.2:c.-589G>T | XP_016874855.1:n.-589G>T | |
| XM_017019367.2:c.-420G>T | XP_016874856.1:n.-420G>T | |
| XR_001749352.2:n.187-6221C>A | ||
| XR_001749354.2:n.187-6221C>A | ||
| NM_002562.6:c.92G>T MANE Select | NP_002553.3:p.Trp31Leu | |
| NR_033948.2:n.187G>T | ||
| NR_033949.2:n.187G>T | ||
| NR_033950.2:n.187G>T | ||
| NR_033951.2:n.187G>T | ||
| NR_033952.2:n.187G>T | ||
| NR_033953.2:n.187G>T | ||
| NR_033954.2:n.187G>T | ||
| NR_033955.2:n.187G>T | ||
| NR_033956.2:n.187G>T |