Linked Data
ClinVar Variation Id:
1505995
ClinVar RCV Id:
RCV002004327
dbSNP Id:
rs748431274
gnomAD v2:
19-18896795-G-C
gnomAD v3:
19-18785985-G-C
gnomAD v4:
19-18785985-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785985G>C , CM000681.2:g.18785985G>C | GRCh38 |
| NC_000019.9:g.18896795G>C , CM000681.1:g.18896795G>C | GRCh37 |
| NC_000019.8:g.18757795G>C | NCBI36 |
| NG_007070.1:g.10320C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1469C>G MANE Select | ENSP00000222271.2:p.Pro490Arg | |
| ENST00000222271.6:c.1469C>G | ENSP00000222271.2:p.Pro490Arg | |
| ENST00000425807.1:c.1310C>G | ENSP00000403792.1:p.Pro437Arg | |
| ENST00000542601.6:c.1370C>G | ENSP00000439156.2:p.Pro457Arg | |
| NM_000095.2:c.1469C>G | NP_000086.2:p.Pro490Arg | |
| NM_000095.3:c.1469C>G MANE Select | NP_000086.2:p.Pro490Arg |