Linked Data
ClinVar Variation Id:
2916691
ClinVar RCV Id:
RCV003760600
dbSNP Id:
rs377319647
ExAC:
2:38302373 G / T
gnomAD v2:
2-38302373-G-T
gnomAD v3:
2-38075230-G-T
gnomAD v4:
2-38075230-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075230G>T , CM000664.2:g.38075230G>T | GRCh38 |
| NC_000002.11:g.38302373G>T , CM000664.1:g.38302373G>T | GRCh37 |
| NC_000002.10:g.38155877G>T | NCBI36 |
| NG_008386.2:g.5872C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.159C>A | ENSP00000478839.2:p.Gly53= | |
| ENST00000610745.5:c.159C>A MANE Select | ENSP00000478561.1:p.Gly53= | |
| ENST00000490576.1:c.159C>A | ENSP00000478839.1:p.Gly53= | |
| ENST00000494864.1:c.-70-3920C>A | ENSP00000479876.1:n.-70-3920C>A | |
| ENST00000610745.4:c.159C>A | ENSP00000478561.1:p.Gly53= | |
| ENST00000613082.1:n.375+550C>A | ||
| ENST00000614273.1:c.159C>A | ENSP00000483678.1:p.Gly53= | |
| NM_000104.3:c.159C>A | NP_000095.2:p.Gly53= | |
| NM_000104.4:c.159C>A MANE Select | NP_000095.2:p.Gly53= |