Linked Data
ClinVar Variation Id:
1562334
ClinVar RCV Id:
RCV002204659
dbSNP Id:
rs747661840
ExAC:
12:103237528 G / C
gnomAD v2:
12-103237528-G-C
gnomAD v4:
12-102843750-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843750G>C , CM000674.2:g.102843750G>C | GRCh38 |
| NC_000012.11:g.103237528G>C , CM000674.1:g.103237528G>C | GRCh37 |
| NC_000012.10:g.101761658G>C | NCBI36 |
| NG_008690.1:g.78853C>G | |
| NG_008690.2:g.119661C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1095C>G MANE Select | ENSP00000448059.1:p.Leu365= | |
| ENST00000307000.7:c.1080C>G | ENSP00000303500.2:p.Leu360= | |
| ENST00000549247.6:n.854C>G | ||
| ENST00000551114.2:n.757C>G | ||
| ENST00000553106.5:c.1095C>G | ENSP00000448059.1:p.Leu365= | |
| ENST00000635477.1:c.199C>G | ||
| ENST00000635528.1:n.610C>G | ||
| NM_000277.1:c.1095C>G | NP_000268.1:p.Leu365= | |
| XM_011538422.1:c.1038C>G | XP_011536724.1:p.Leu346= | |
| NM_000277.2:c.1095C>G | NP_000268.1:p.Leu365= | |
| NM_001354304.1:c.1095C>G | NP_001341233.1:p.Leu365= | |
| NM_000277.3:c.1095C>G MANE Select | NP_000268.1:p.Leu365= | |
| NM_001354304.2:c.1095C>G | NP_001341233.1:p.Leu365= |