Linked Data
ClinVar Variation Id:
2094565
ClinVar RCV Id:
RCV003010318
gnomAD v4:
12-102894895-G-A
MyVariant Identifiers:
chr12:g.103288673G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894895G>A , CM000674.2:g.102894895G>A | GRCh38 |
| NC_000012.11:g.103288673G>A , CM000674.1:g.103288673G>A | GRCh37 |
| NC_000012.10:g.101812803G>A | NCBI36 |
| NG_008690.1:g.27708C>T | |
| NG_008690.2:g.68516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.192C>T MANE Select | ENSP00000448059.1:p.His64= | |
| ENST00000307000.7:c.177C>T | ENSP00000303500.2:p.His59= | |
| ENST00000546844.1:c.192C>T | ENSP00000446658.1:p.His64= | |
| ENST00000548677.2:n.279C>T | ||
| ENST00000548928.1:n.114C>T | ||
| ENST00000549111.5:n.288C>T | ||
| ENST00000550978.6:c.176C>T | ||
| ENST00000551337.5:c.192C>T | ENSP00000447620.1:p.His64= | |
| ENST00000551988.5:n.281C>T | ||
| ENST00000553106.5:c.192C>T | ENSP00000448059.1:p.His64= | |
| ENST00000635500.1:n.160C>T | ||
| NM_000277.1:c.192C>T | NP_000268.1:p.His64= | |
| XM_011538422.1:c.192C>T | XP_011536724.1:p.His64= | |
| NM_000277.2:c.192C>T | NP_000268.1:p.His64= | |
| NM_001354304.1:c.192C>T | NP_001341233.1:p.His64= | |
| XM_017019370.2:c.192C>T | XP_016874859.1:p.His64= | |
| NM_000277.3:c.192C>T MANE Select | NP_000268.1:p.His64= | |
| NM_001354304.2:c.192C>T | NP_001341233.1:p.His64= |