Linked Data
ClinVar Variation Id:
1331139
ClinVar RCV Id:
RCV001806484
dbSNP Id:
rs1567939731
gnomAD v4:
17-74919989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919989C>T , CM000679.2:g.74919989C>T | GRCh38 |
| NC_000017.10:g.72916084C>T , CM000679.1:g.72916084C>T | GRCh37 |
| NC_000017.9:g.70427679C>T | NCBI36 |
| NG_007882.1:g.8268G>A | |
| NG_033062.1:g.715C>T | |
| NG_007882.2:g.8275G>A | |
| NG_033062.2:g.715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.847G>A MANE Select | ENSP00000480279.1:p.Val283Ile | |
| ENST00000579243.1:c.*446G>A | ENSP00000462568.1:n.*446G>A | |
| ENST00000614341.4:c.847G>A | ENSP00000480279.1:p.Val283Ile | |
| NM_001282489.2:c.538G>A | NP_001269418.1:p.Val180Ile | |
| NM_173477.4:c.847G>A | NP_775748.2:p.Val283Ile | |
| XM_011524296.1:c.538G>A | XP_011522598.1:p.Val180Ile | |
| XM_011524296.2:c.538G>A | XP_011522598.1:p.Val180Ile | |
| NM_173477.5:c.847G>A MANE Select | NP_775748.2:p.Val283Ile | |
| NM_001282489.3:c.538G>A | NP_001269418.1:p.Val180Ile |