Linked Data
ClinVar Variation Id:
1482205
ClinVar RCV Id:
RCV002025115
dbSNP Id:
rs867983497
gnomAD v4:
19-18785986-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785986G>T , CM000681.2:g.18785986G>T | GRCh38 |
| NC_000019.9:g.18896796G>T , CM000681.1:g.18896796G>T | GRCh37 |
| NC_000019.8:g.18757796G>T | NCBI36 |
| NG_007070.1:g.10319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1468C>A MANE Select | ENSP00000222271.2:p.Pro490Thr | |
| ENST00000222271.6:c.1468C>A | ENSP00000222271.2:p.Pro490Thr | |
| ENST00000425807.1:c.1309C>A | ENSP00000403792.1:p.Pro437Thr | |
| ENST00000542601.6:c.1369C>A | ENSP00000439156.2:p.Pro457Thr | |
| NM_000095.2:c.1468C>A | NP_000086.2:p.Pro490Thr | |
| NM_000095.3:c.1468C>A MANE Select | NP_000086.2:p.Pro490Thr |