Linked Data
ClinVar Variation Id:
44704
dbSNP Id:
rs201664428
ExAC:
17:37821628 C / A
gnomAD v2:
17-37821628-C-A
gnomAD v3:
17-39665375-C-A
gnomAD v4:
17-39665375-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665375C>A , CM000679.2:g.39665375C>A | GRCh38 |
| NC_000017.10:g.37821628C>A , CM000679.1:g.37821628C>A | GRCh37 |
| NC_000017.9:g.35075154C>A | NCBI36 |
| NG_008892.1:g.5030C>A , LRG_210:g.5030C>A | |
| NG_042278.1:g.2395C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.16C>A MANE Select | ENSP00000312624.2:p.Leu6Met | |
| ENST00000309889.2:c.16C>A | ENSP00000312624.2:p.Leu6Met | |
| ENST00000578283.1:c.16C>A | ENSP00000462787.1:p.Leu6Met | |
| NM_003673.3:c.16C>A , LRG_210t1:c.16C>A | NP_003664.1:p.Leu6Met | |
| NM_003673.4:c.16C>A MANE Select | NP_003664.1:p.Leu6Met |