Linked Data
ClinVar Variation Id:
2794817
ClinVar RCV Id:
RCV003675057
dbSNP Id:
rs895302818
gnomAD v4:
20-6097010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097010C>T , CM000682.2:g.6097010C>T | GRCh38 |
| NC_000020.10:g.6077657C>T , CM000682.1:g.6077657C>T | GRCh37 |
| NC_000020.9:g.6025657C>T | NCBI36 |
| NG_016213.1:g.31535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.981G>A | ENSP00000514127.1:p.Leu327= | |
| ENST00000699096.1:n.1443G>A | ||
| ENST00000699097.1:n.151G>A | ||
| ENST00000217289.9:c.981G>A MANE Select | ENSP00000217289.4:p.Leu327= | |
| ENST00000217289.8:c.981G>A | ENSP00000217289.4:p.Leu327= | |
| ENST00000536936.1:c.210G>A | ENSP00000441063.1:p.Leu70= | |
| NM_017671.4:c.981G>A | NP_060141.3:p.Leu327= | |
| XM_024451935.1:c.981G>A | XP_024307703.1:p.Leu327= | |
| NM_017671.5:c.981G>A MANE Select | NP_060141.3:p.Leu327= |