Linked Data
ClinVar Variation Id:
942568
dbSNP Id:
rs753452550
ExAC:
11:62381084 G / T
gnomAD v2:
11-62381084-G-T
gnomAD v3:
11-62613612-G-T
gnomAD v4:
11-62613612-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613612G>T , CM000673.2:g.62613612G>T | GRCh38 |
| NC_000011.9:g.62381084G>T , CM000673.1:g.62381084G>T | GRCh37 |
| NC_000011.8:g.62137660G>T | NCBI36 |
| NG_009845.1:g.5872G>T | |
| NG_031863.1:g.13564C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.331G>T MANE Select | ENSP00000278833.3:p.Gly111Trp | |
| ENST00000278833.3:c.331G>T | ENSP00000278833.3:p.Gly111Trp | |
| ENST00000525801.1:c.-38-646G>T | ENSP00000433566.1:n.-38-646G>T | |
| ENST00000525947.1:c.-202G>T | ENSP00000432983.1:n.-202G>T | |
| ENST00000534093.5:c.-38-646G>T | ENSP00000432151.1:n.-38-646G>T | |
| NM_000327.3:c.331G>T | NP_000318.1:p.Gly111Trp | |
| NM_000327.4:c.331G>T MANE Select | NP_000318.2:p.Gly111Trp |