Linked Data
ClinVar Variation Id:
1473718
ClinVar RCV Id:
RCV002005335
dbSNP Id:
rs2148847897
gnomAD v4:
18-49567517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49567517G>A , CM000680.2:g.49567517G>A | GRCh38 |
| NC_000018.9:g.47093887G>A , CM000680.1:g.47093887G>A | GRCh37 |
| NC_000018.8:g.45347885G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.355G>A MANE Select | ENSP00000261292.4:p.Val119Ile | |
| ENST00000261292.8:c.355G>A | ENSP00000261292.4:p.Val119Ile | |
| ENST00000427224.6:c.355G>A | ENSP00000387978.2:p.Val119Ile | |
| ENST00000577628.5:c.463G>A | ENSP00000463835.1:p.Val155Ile | |
| ENST00000579750.1:c.319G>A | ENSP00000462480.1:p.Val107Ile | |
| ENST00000580036.5:c.355G>A | ENSP00000462420.1:p.Val119Ile | |
| NM_001308006.1:c.355G>A | NP_001294935.1:p.Val119Ile | |
| NM_006033.2:c.355G>A | NP_006024.1:p.Val119Ile | |
| NM_006033.3:c.355G>A | NP_006024.1:p.Val119Ile | |
| XM_005258390.1:c.463G>A | XP_005258447.1:p.Val155Ile | |
| XM_011526265.1:c.463G>A | XP_011524567.1:p.Val155Ile | |
| XM_011526267.1:c.115G>A | XP_011524569.1:p.Val39Ile | |
| XM_011526265.3:c.463G>A | XP_011524567.1:p.Val155Ile | |
| XM_017026095.1:c.-349G>A | XP_016881584.1:n.-349G>A | |
| NM_006033.4:c.355G>A MANE Select | NP_006024.1:p.Val119Ile | |
| NM_001308006.2:c.355G>A | NP_001294935.1:p.Val119Ile |