Linked Data
ClinVar Variation Id:
2043488
ClinVar RCV Id:
RCV002913034
dbSNP Id:
rs1305122911
gnomAD v2:
1-115218247-G-A
gnomAD v3:
1-114675626-G-A
gnomAD v4:
1-114675626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114675626G>A , CM000663.2:g.114675626G>A | GRCh38 |
| NC_000001.10:g.115218247G>A , CM000663.1:g.115218247G>A | GRCh37 |
| NC_000001.9:g.115019770G>A | NCBI36 |
| NG_008012.1:g.24930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1571C>T | ENSP00000358551.4:p.Pro524Leu | |
| ENST00000520113.7:c.1583C>T MANE Select | ENSP00000430075.3:p.Pro528Leu | |
| ENST00000637080.1:c.1366C>T | ENSP00000489753.1:n.1366C>T | |
| ENST00000638214.1:n.613C>T | ||
| ENST00000639077.1:n.1105C>T | ||
| ENST00000639274.1:n.213C>T | ||
| ENST00000369538.3:c.1670C>T | ENSP00000358551.3:p.Pro557Leu | |
| ENST00000520113.6:c.1682C>T | ENSP00000430075.2:p.Pro561Leu | |
| NM_000036.2:c.1682C>T | NP_000027.2:p.Pro561Leu | |
| NM_001172626.1:c.1670C>T | NP_001166097.1:p.Pro557Leu | |
| NM_000036.3:c.1583C>T MANE Select | NP_000027.3:p.Pro528Leu | |
| NM_001172626.2:c.1571C>T | NP_001166097.2:p.Pro524Leu |