Linked Data
ClinVar Variation Id:
325874
ClinVar RCV Id:
RCV000321416
dbSNP Id:
rs769562383
ExAC:
17:7978975 G / A
gnomAD v2:
17-7978975-G-A
gnomAD v4:
17-8075657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075657G>A , CM000679.2:g.8075657G>A | GRCh38 |
| NC_000017.10:g.7978975G>A , CM000679.1:g.7978975G>A | GRCh37 |
| NC_000017.9:g.7919700G>A | NCBI36 |
| NG_007099.1:g.17047C>T | |
| NG_007099.2:g.17060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1592C>T MANE Select | ENSP00000497784.1:p.Pro531Leu | |
| ENST00000649809.1:c.656C>T | ENSP00000496845.1:p.Pro219Leu | |
| ENST00000319144.4:c.1592C>T | ENSP00000315167.4:p.Pro531Leu | |
| ENST00000577351.5:n.479+518C>T | ||
| NM_001139.2:c.1592C>T | NP_001130.1:p.Pro531Leu | |
| NM_001139.3:c.1592C>T MANE Select | NP_001130.1:p.Pro531Leu |