Linked Data
ClinVar Variation Id:
1614607
ClinVar RCV Id:
RCV002078733
dbSNP Id:
rs2136639524
MyVariant Identifiers:
chr12:g.103240688A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846910A>G , CM000674.2:g.102846910A>G | GRCh38 |
| NC_000012.11:g.103240688A>G , CM000674.1:g.103240688A>G | GRCh37 |
| NC_000012.10:g.101764818A>G | NCBI36 |
| NG_008690.1:g.75693T>C | |
| NG_008690.2:g.116501T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.954T>C MANE Select | ENSP00000448059.1:p.Ile318= | |
| ENST00000307000.7:c.939T>C | ENSP00000303500.2:p.Ile313= | |
| ENST00000549247.6:n.713T>C | ||
| ENST00000551114.2:n.616T>C | ||
| ENST00000553106.5:c.954T>C | ENSP00000448059.1:p.Ile318= | |
| ENST00000635477.1:c.74-2479T>C | ||
| ENST00000635528.1:n.469T>C | ||
| NM_000277.1:c.954T>C | NP_000268.1:p.Ile318= | |
| XM_011538422.1:c.913-2479T>C | XP_011536724.1:n.913-2479T>C | |
| NM_000277.2:c.954T>C | NP_000268.1:p.Ile318= | |
| NM_001354304.1:c.954T>C | NP_001341233.1:p.Ile318= | |
| NM_000277.3:c.954T>C MANE Select | NP_000268.1:p.Ile318= | |
| NM_001354304.2:c.954T>C | NP_001341233.1:p.Ile318= |