Linked Data
ClinVar Variation Id:
2246480
ClinVar RCV Id:
RCV004104417
dbSNP Id:
rs1428106195
gnomAD v2:
19-7928427-G-A
gnomAD v4:
19-7863541-G-A
COSMIC:
COSM5857122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7863541G>A , CM000681.2:g.7863541G>A | GRCh38 |
| NC_000019.9:g.7928427G>A , CM000681.1:g.7928427G>A | GRCh37 |
| NC_000019.8:g.7834427G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538904.7:c.2257G>A MANE Select | ENSP00000445905.1:p.Val753Ile | |
| ENST00000270530.8:c.2224G>A | ENSP00000270530.3:p.Val742Ile | |
| ENST00000538904.6:c.2257G>A | ENSP00000445905.1:p.Val753Ile | |
| ENST00000601766.1:c.391G>A | ENSP00000470145.1:p.Val131Ile | |
| NM_001159944.2:c.2257G>A | NP_001153416.1:p.Val753Ile | |
| NM_145245.4:c.2224G>A | NP_660288.1:p.Val742Ile | |
| XM_005272458.3:c.2257G>A | XP_005272515.1:p.Val753Ile | |
| XM_005272458.5:c.2257G>A | XP_005272515.1:p.Val753Ile | |
| XM_017026239.1:c.2257G>A | XP_016881728.1:p.Val753Ile | |
| NM_001159944.3:c.2257G>A MANE Select | NP_001153416.1:p.Val753Ile | |
| NM_145245.5:c.2224G>A | NP_660288.1:p.Val742Ile |