Linked Data
ClinVar Variation Id:
2409714
ClinVar RCV Id:
RCV004246740
dbSNP Id:
rs201595252
ExAC:
19:19377322 C / A
gnomAD v2:
19-19377322-C-A
gnomAD v3:
19-19266513-C-A
gnomAD v4:
19-19266513-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19266513C>A , CM000681.2:g.19266513C>A | GRCh38 |
| NC_000019.9:g.19377322C>A , CM000681.1:g.19377322C>A | GRCh37 |
| NC_000019.8:g.19238322C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389363.5:c.901G>T MANE Select | ENSP00000374014.2:p.Val301Leu | |
| ENST00000389363.4:c.901G>T | ENSP00000374014.2:p.Val301Leu | |
| ENST00000431465.2:n.1297G>T | ||
| ENST00000590431.6:n.204G>T | ||
| ENST00000591001.5:n.1235G>T | ||
| NM_001001524.2:c.901G>T | NP_001001524.2:p.Val301Leu | |
| NM_001001524.3:c.901G>T MANE Select | NP_001001524.2:p.Val301Leu |