Linked Data
ClinVar Variation Id:
1093797
ClinVar RCV Id:
RCV001414103
dbSNP Id:
rs747661840
gnomAD v4:
12-102843750-G-A
MyVariant Identifiers:
chr12:g.103237528G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843750G>A , CM000674.2:g.102843750G>A | GRCh38 |
| NC_000012.11:g.103237528G>A , CM000674.1:g.103237528G>A | GRCh37 |
| NC_000012.10:g.101761658G>A | NCBI36 |
| NG_008690.1:g.78853C>T | |
| NG_008690.2:g.119661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1095C>T MANE Select | ENSP00000448059.1:p.Leu365= | |
| ENST00000307000.7:c.1080C>T | ENSP00000303500.2:p.Leu360= | |
| ENST00000549247.6:n.854C>T | ||
| ENST00000551114.2:n.757C>T | ||
| ENST00000553106.5:c.1095C>T | ENSP00000448059.1:p.Leu365= | |
| ENST00000635477.1:c.199C>T | ||
| ENST00000635528.1:n.610C>T | ||
| NM_000277.1:c.1095C>T | NP_000268.1:p.Leu365= | |
| XM_011538422.1:c.1038C>T | XP_011536724.1:p.Leu346= | |
| NM_000277.2:c.1095C>T | NP_000268.1:p.Leu365= | |
| NM_001354304.1:c.1095C>T | NP_001341233.1:p.Leu365= | |
| NM_000277.3:c.1095C>T MANE Select | NP_000268.1:p.Leu365= | |
| NM_001354304.2:c.1095C>T | NP_001341233.1:p.Leu365= |