Linked Data
ClinVar Variation Id:
1685164
dbSNP Id:
rs368136178
ExAC:
X:79279657 G / T
gnomAD v2:
X-79279657-G-T
gnomAD v3:
X-80024158-G-T
gnomAD v4:
X-80024158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80024158G>T , CM000685.2:g.80024158G>T | GRCh38 |
| NC_000023.10:g.79279657G>T , CM000685.1:g.79279657G>T | GRCh37 |
| NC_000023.9:g.79166313G>T | NCBI36 |
| NG_008998.1:g.14403G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.452G>T MANE Select | ENSP00000362393.3:p.Arg151Leu | |
| ENST00000373294.8:c.452G>T | ENSP00000362390.5:p.Arg151Leu | |
| ENST00000373296.7:c.452G>T | ENSP00000362393.3:p.Arg151Leu | |
| ENST00000626498.2:c.*64G>T | ENSP00000487527.1:n.*64G>T | |
| ENST00000626877.1:n.331G>T | ||
| NM_001109878.1:c.452G>T | NP_001103348.1:p.Arg151Leu | |
| NM_001109879.1:c.92G>T | NP_001103349.1:p.Arg31Leu | |
| NM_001303475.1:c.92G>T | NP_001290404.1:p.Arg31Leu | |
| NM_016954.2:c.452G>T | NP_058650.1:p.Arg151Leu | |
| XM_005262136.2:c.455G>T | XP_005262193.1:p.Arg152Leu | |
| XM_006724657.2:c.455G>T | XP_006724720.1:p.Arg152Leu | |
| XM_011530972.1:c.92G>T | XP_011529274.1:p.Arg31Leu | |
| NM_001109878.2:c.452G>T MANE Select | NP_001103348.1:p.Arg151Leu | |
| NM_001109879.2:c.92G>T | NP_001103349.1:p.Arg31Leu |