Linked Data
ClinVar Variation Id:
714215
ClinVar RCV Id:
RCV000886492
dbSNP Id:
rs975242904
gnomAD v4:
19-15191950-G-C
MyVariant Identifiers:
chr19:g.15191950G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191950G>C , CM000681.2:g.15191950G>C | GRCh38 |
| NC_000019.9:g.15302761G>C , CM000681.1:g.15302761G>C | GRCh37 |
| NC_000019.8:g.15163761G>C | NCBI36 |
| NG_009819.1:g.14032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.679+10C>G MANE Select | ENSP00000263388.1:n.679+10C>G | |
| ENST00000263388.6:c.679+10C>G | ENSP00000263388.1:n.679+10C>G | |
| ENST00000601011.1:c.676+10C>G | ENSP00000473138.1:n.676+10C>G | |
| NM_000435.2:c.679+10C>G | NP_000426.2:n.679+10C>G | |
| XM_005259924.3:c.679+10C>G | XP_005259981.1:n.679+10C>G | |
| XM_005259924.4:c.679+10C>G | XP_005259981.1:n.679+10C>G | |
| NM_000435.3:c.679+10C>G MANE Select | NP_000426.2:n.679+10C>G |