Linked Data
ClinVar Variation Id:
2732644
ClinVar RCV Id:
RCV003595556
dbSNP Id:
rs1164813315
gnomAD v2:
2-38302340-C-A
gnomAD v4:
2-38075197-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075197C>A , CM000664.2:g.38075197C>A | GRCh38 |
| NC_000002.11:g.38302340C>A , CM000664.1:g.38302340C>A | GRCh37 |
| NC_000002.10:g.38155844C>A | NCBI36 |
| NG_008386.2:g.5905G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.192G>T | ENSP00000478839.2:p.Ala64= | |
| ENST00000610745.5:c.192G>T MANE Select | ENSP00000478561.1:p.Ala64= | |
| ENST00000490576.1:c.192G>T | ENSP00000478839.1:p.Ala64= | |
| ENST00000494864.1:c.-70-3887G>T | ENSP00000479876.1:n.-70-3887G>T | |
| ENST00000610745.4:c.192G>T | ENSP00000478561.1:p.Ala64= | |
| ENST00000613082.1:n.375+583G>T | ||
| ENST00000614273.1:c.192G>T | ENSP00000483678.1:p.Ala64= | |
| NM_000104.3:c.192G>T | NP_000095.2:p.Ala64= | |
| NM_000104.4:c.192G>T MANE Select | NP_000095.2:p.Ala64= |