Linked Data
ClinVar Variation Id:
193086
dbSNP Id:
rs148196509
ExAC:
11:62380834 G / T
gnomAD v2:
11-62380834-G-T
gnomAD v3:
11-62613362-G-T
gnomAD v4:
11-62613362-G-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613362G>T , CM000673.2:g.62613362G>T | GRCh38 |
| NC_000011.9:g.62380834G>T , CM000673.1:g.62380834G>T | GRCh37 |
| NC_000011.8:g.62137410G>T | NCBI36 |
| NG_009845.1:g.5622G>T | |
| NG_031863.1:g.13814C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.81G>T MANE Select | ENSP00000278833.3:p.Leu27= | |
| ENST00000278833.3:c.81G>T | ENSP00000278833.3:p.Leu27= | |
| ENST00000525801.1:c.-38-896G>T | ENSP00000433566.1:n.-38-896G>T | |
| ENST00000534093.5:c.-38-896G>T | ENSP00000432151.1:n.-38-896G>T | |
| NM_000327.3:c.81G>T | NP_000318.1:p.Leu27= | |
| NM_000327.4:c.81G>T MANE Select | NP_000318.2:p.Leu27= |