Linked Data
ClinVar Variation Id:
2804829
ClinVar RCV Id:
RCV003598909
MyVariant Identifiers:
chr12:g.103238150A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844372A>G , CM000674.2:g.102844372A>G | GRCh38 |
| NC_000012.11:g.103238150A>G , CM000674.1:g.103238150A>G | GRCh37 |
| NC_000012.10:g.101762280A>G | NCBI36 |
| NG_008690.1:g.78231T>C | |
| NG_008690.2:g.119039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1029T>C MANE Select | ENSP00000448059.1:p.Tyr343= | |
| ENST00000307000.7:c.1014T>C | ENSP00000303500.2:p.Tyr338= | |
| ENST00000549247.6:n.788T>C | ||
| ENST00000551114.2:n.691T>C | ||
| ENST00000553106.5:c.1029T>C | ENSP00000448059.1:p.Tyr343= | |
| ENST00000635477.1:c.133T>C | ||
| ENST00000635528.1:n.544T>C | ||
| NM_000277.1:c.1029T>C | NP_000268.1:p.Tyr343= | |
| XM_011538422.1:c.972T>C | XP_011536724.1:p.Tyr324= | |
| NM_000277.2:c.1029T>C | NP_000268.1:p.Tyr343= | |
| NM_001354304.1:c.1029T>C | NP_001341233.1:p.Tyr343= | |
| NM_000277.3:c.1029T>C MANE Select | NP_000268.1:p.Tyr343= | |
| NM_001354304.2:c.1029T>C | NP_001341233.1:p.Tyr343= |