Linked Data
ClinVar Variation Id:
1580614
ClinVar RCV Id:
RCV002075769
dbSNP Id:
rs1341666694
gnomAD v2:
16-18812783-C-T
gnomAD v3:
16-18801461-C-T
gnomAD v4:
16-18801461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18801461C>T , CM000678.2:g.18801461C>T | GRCh38 |
| NC_000016.9:g.18812783C>T , CM000678.1:g.18812783C>T | GRCh37 |
| NC_000016.8:g.18720284C>T | NCBI36 |
| NG_042860.1:g.5218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.6G>A MANE Select | ENSP00000306788.7:p.Ala2= | |
| ENST00000304414.11:c.6G>A | ENSP00000306788.7:p.Ala2= | |
| ENST00000562234.2:c.6G>A | ENSP00000455341.2:p.Ala2= | |
| ENST00000562819.5:c.6G>A | ENSP00000457372.1:p.Ala2= | |
| ENST00000563861.5:c.6G>A | ENSP00000456596.1:p.Ala2= | |
| ENST00000566391.1:n.112G>A | ||
| ENST00000567078.2:c.6G>A | ENSP00000454746.2:p.Ala2= | |
| ENST00000567969.1:n.84G>A | ||
| ENST00000569976.5:n.88G>A | ||
| NM_015161.1:c.6G>A | NP_055976.1:p.Ala2= | |
| NM_015161.2:c.6G>A | NP_055976.1:p.Ala2= | |
| NM_015161.3:c.6G>A MANE Select | NP_055976.1:p.Ala2= |