Linked Data
ClinVar Variation Id:
860888
ClinVar RCV Id:
RCV001067280
dbSNP Id:
rs1909001767
gnomAD v4:
17-7454502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454502G>A , CM000679.2:g.7454502G>A | GRCh38 |
| NC_000017.10:g.7357821G>A , CM000679.1:g.7357821G>A | GRCh37 |
| NC_000017.9:g.7298545G>A | NCBI36 |
| NG_008026.1:g.14416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1026G>A MANE Select | ENSP00000304290.2:p.Met342Ile | |
| ENST00000306071.6:c.1026G>A | ENSP00000304290.2:p.Met342Ile | |
| ENST00000536404.6:c.810G>A | ENSP00000439209.2:p.Met270Ile | |
| ENST00000570557.5:c.689G>A | ||
| ENST00000573209.1:n.1970G>A | ||
| ENST00000576360.1:c.663G>A | ENSP00000459092.1:p.Met221Ile | |
| NM_000747.2:c.1026G>A | NP_000738.2:p.Met342Ile | |
| NM_000747.3:c.1026G>A MANE Select | NP_000738.2:p.Met342Ile |