Linked Data
ClinVar Variation Id:
3095511
ClinVar RCV Id:
RCV004386829
dbSNP Id:
rs140561538
ExAC:
1:152281331 G / T
gnomAD v2:
1-152281331-G-T
gnomAD v3:
1-152308855-G-T
gnomAD v4:
1-152308855-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308855G>T , CM000663.2:g.152308855G>T | GRCh38 |
| NC_000001.10:g.152281331G>T , CM000663.1:g.152281331G>T | GRCh37 |
| NC_000001.9:g.150547955G>T | NCBI36 |
| NG_016190.1:g.21349C>A , LRG_1028:g.21349C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6031C>A MANE Select | ENSP00000357789.1:p.Leu2011Ile | |
| ENST00000368799.1:c.6031C>A | ENSP00000357789.1:p.Leu2011Ile | |
| NM_002016.1:c.6031C>A , LRG_1028t1:c.6031C>A | NP_002007.1:p.Leu2011Ile | |
| XM_011509329.1:c.6031C>A | XP_011507631.1:p.Leu2011Ile | |
| NM_002016.2:c.6031C>A MANE Select | NP_002007.1:p.Leu2011Ile |