Linked Data
ClinVar Variation Id:
2858539
ClinVar RCV Id:
RCV003597479
MyVariant Identifiers:
chr12:g.103246628G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852850G>T , CM000674.2:g.102852850G>T | GRCh38 |
| NC_000012.11:g.103246628G>T , CM000674.1:g.103246628G>T | GRCh37 |
| NC_000012.10:g.101770758G>T | NCBI36 |
| NG_008690.1:g.69753C>A | |
| NG_008690.2:g.110561C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.807C>A MANE Select | ENSP00000448059.1:p.Ile269= | |
| ENST00000307000.7:c.792C>A | ENSP00000303500.2:p.Ile264= | |
| ENST00000549247.6:n.566C>A | ||
| ENST00000553106.5:c.807C>A | ENSP00000448059.1:p.Ile269= | |
| NM_000277.1:c.807C>A | NP_000268.1:p.Ile269= | |
| XM_011538422.1:c.807C>A | XP_011536724.1:p.Ile269= | |
| NM_000277.2:c.807C>A | NP_000268.1:p.Ile269= | |
| NM_001354304.1:c.807C>A | NP_001341233.1:p.Ile269= | |
| NM_000277.3:c.807C>A MANE Select | NP_000268.1:p.Ile269= | |
| NM_001354304.2:c.807C>A | NP_001341233.1:p.Ile269= |