Linked Data
ClinVar Variation Id:
2098882
ClinVar RCV Id:
RCV003019332
dbSNP Id:
rs202228058
gnomAD v4:
19-18784912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784912G>A , CM000681.2:g.18784912G>A | GRCh38 |
| NC_000019.9:g.18895722G>A , CM000681.1:g.18895722G>A | GRCh37 |
| NC_000019.8:g.18756722G>A | NCBI36 |
| NG_007070.1:g.11393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1898C>T MANE Select | ENSP00000222271.2:p.Pro633Leu | |
| ENST00000222271.6:c.1898C>T | ENSP00000222271.2:p.Pro633Leu | |
| ENST00000425807.1:c.1739C>T | ENSP00000403792.1:p.Pro580Leu | |
| ENST00000542601.6:c.1799C>T | ENSP00000439156.2:p.Pro600Leu | |
| NM_000095.2:c.1898C>T | NP_000086.2:p.Pro633Leu | |
| NM_000095.3:c.1898C>T MANE Select | NP_000086.2:p.Pro633Leu |