Linked Data
ClinVar Variation Id:
426821
ClinVar RCV Id:
RCV000490067
dbSNP Id:
rs1085307816
gnomAD v2:
13-110864920-C-T
gnomAD v4:
13-110212573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110212573C>T , CM000675.2:g.110212573C>T | GRCh38 |
| NC_000013.10:g.110864920C>T , CM000675.1:g.110864920C>T | GRCh37 |
| NC_000013.9:g.109662921C>T | NCBI36 |
| NG_011544.2:g.99577G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.324+1G>A MANE Select | ENSP00000364979.4:n.324+1G>A | |
| ENST00000543140.6:c.324+1G>A | ENSP00000443348.1:n.324+1G>A | |
| ENST00000615732.2:c.132+1G>A | ENSP00000478222.2:n.132+1G>A | |
| ENST00000647797.1:c.203+1G>A | ||
| ENST00000648170.1:n.203+1G>A | ||
| ENST00000648966.1:c.203+1G>A | ||
| ENST00000649484.1:c.203+1G>A | ||
| ENST00000649738.1:n.454+1G>A | ||
| ENST00000650138.1:n.13+1G>A | ||
| ENST00000375820.8:c.324+1G>A | ENSP00000364979.4:n.324+1G>A | |
| ENST00000543140.5:c.324+1G>A | ENSP00000443348.1:n.324+1G>A | |
| ENST00000615732.1:c.132+1G>A | ENSP00000478222.1:n.132+1G>A | |
| NM_001303110.1:c.324+1G>A | NP_001290039.1:n.324+1G>A | |
| NM_001845.5:c.324+1G>A | NP_001836.3:n.324+1G>A | |
| XM_011521048.1:c.132+1G>A | XP_011519350.1:n.132+1G>A | |
| XM_011521048.2:c.132+1G>A | XP_011519350.1:n.132+1G>A | |
| NM_001845.6:c.324+1G>A MANE Select | NP_001836.3:n.324+1G>A | |
| NM_001303110.2:c.324+1G>A | NP_001290039.1:n.324+1G>A |