Linked Data
ClinVar Variation Id:
2632751
ClinVar RCV Id:
RCV004528705
dbSNP Id:
rs2046933477
gnomAD v4:
19-15192163-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192163A>G , CM000681.2:g.15192163A>G | GRCh38 |
| NC_000019.9:g.15302974A>G , CM000681.1:g.15302974A>G | GRCh37 |
| NC_000019.8:g.15163974A>G | NCBI36 |
| NG_009819.1:g.13819T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.476T>C MANE Select | ENSP00000263388.1:p.Val159Ala | |
| ENST00000263388.6:c.476T>C | ENSP00000263388.1:p.Val159Ala | |
| ENST00000601011.1:c.473T>C | ENSP00000473138.1:p.Val158Ala | |
| NM_000435.2:c.476T>C | NP_000426.2:p.Val159Ala | |
| XM_005259924.3:c.476T>C | XP_005259981.1:p.Val159Ala | |
| XM_005259924.4:c.476T>C | XP_005259981.1:p.Val159Ala | |
| NM_000435.3:c.476T>C MANE Select | NP_000426.2:p.Val159Ala |