Linked Data
ClinVar Variation Id:
39539
dbSNP Id:
rs397514527
gnomAD v2:
17-7980043-G-A
gnomAD v4:
17-8076725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076725G>A , CM000679.2:g.8076725G>A | GRCh38 |
| NC_000017.10:g.7980043G>A , CM000679.1:g.7980043G>A | GRCh37 |
| NC_000017.9:g.7920768G>A | NCBI36 |
| NG_007099.1:g.15979C>T | |
| NG_007099.2:g.15992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1294C>T MANE Select | ENSP00000497784.1:p.Arg432Ter | |
| ENST00000649809.1:c.358C>T | ENSP00000496845.1:p.Arg120Ter | |
| ENST00000319144.4:c.1294C>T | ENSP00000315167.4:p.Arg432Ter | |
| ENST00000577351.5:n.241C>T | ||
| ENST00000583276.5:n.678C>T | ||
| ENST00000584116.1:n.550C>T | ||
| NM_001139.2:c.1294C>T | NP_001130.1:p.Arg432Ter | |
| NM_001139.3:c.1294C>T MANE Select | NP_001130.1:p.Arg432Ter |