Linked Data
ClinVar Variation Id:
703263
ClinVar RCV Id:
RCV000872766
dbSNP Id:
rs150438748
ExAC:
19:15297786 T / C
gnomAD v2:
19-15297786-T-C
gnomAD v3:
19-15186975-T-C
gnomAD v4:
19-15186975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15186975T>C , CM000681.2:g.15186975T>C | GRCh38 |
| NC_000019.9:g.15297786T>C , CM000681.1:g.15297786T>C | GRCh37 |
| NC_000019.8:g.15158786T>C | NCBI36 |
| NG_009819.1:g.19007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1854A>G MANE Select | ENSP00000263388.1:p.Glu618= | |
| ENST00000263388.6:c.1854A>G | ENSP00000263388.1:p.Glu618= | |
| ENST00000601011.1:c.1851A>G | ENSP00000473138.1:p.Glu617= | |
| NM_000435.2:c.1854A>G | NP_000426.2:p.Glu618= | |
| XM_005259924.3:c.1854A>G | XP_005259981.1:p.Glu618= | |
| XM_005259924.4:c.1854A>G | XP_005259981.1:p.Glu618= | |
| NM_000435.3:c.1854A>G MANE Select | NP_000426.2:p.Glu618= |