Linked Data
ClinVar Variation Id:
3001674
ClinVar RCV Id:
RCV003862737
MyVariant Identifiers:
chr12:g.103271315T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877537T>C , CM000674.2:g.102877537T>C | GRCh38 |
| NC_000012.11:g.103271315T>C , CM000674.1:g.103271315T>C | GRCh37 |
| NC_000012.10:g.101795445T>C | NCBI36 |
| NG_008690.1:g.45066A>G | |
| NG_008690.2:g.85874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.366A>G MANE Select | ENSP00000448059.1:p.Pro122= | |
| ENST00000307000.7:c.351A>G | ENSP00000303500.2:p.Pro117= | |
| ENST00000549111.5:n.462A>G | ||
| ENST00000550978.6:c.350A>G | ||
| ENST00000551337.5:c.366A>G | ENSP00000447620.1:p.Pro122= | |
| ENST00000551988.5:n.455A>G | ||
| ENST00000553106.5:c.366A>G | ENSP00000448059.1:p.Pro122= | |
| NM_000277.1:c.366A>G | NP_000268.1:p.Pro122= | |
| XM_011538422.1:c.366A>G | XP_011536724.1:p.Pro122= | |
| NM_000277.2:c.366A>G | NP_000268.1:p.Pro122= | |
| NM_001354304.1:c.366A>G | NP_001341233.1:p.Pro122= | |
| XM_017019370.2:c.366A>G | XP_016874859.1:p.Pro122= | |
| NM_000277.3:c.366A>G MANE Select | NP_000268.1:p.Pro122= | |
| NM_001354304.2:c.366A>G | NP_001341233.1:p.Pro122= |