Linked Data
ClinVar Variation Id:
2153068
ClinVar RCV Id:
RCV003077422
gnomAD v4:
12-102844408-A-G
MyVariant Identifiers:
chr12:g.103238186A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844408A>G , CM000674.2:g.102844408A>G | GRCh38 |
| NC_000012.11:g.103238186A>G , CM000674.1:g.103238186A>G | GRCh37 |
| NC_000012.10:g.101762316A>G | NCBI36 |
| NG_008690.1:g.78195T>C | |
| NG_008690.2:g.119003T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.993T>C MANE Select | ENSP00000448059.1:p.Phe331= | |
| ENST00000307000.7:c.978T>C | ENSP00000303500.2:p.Phe326= | |
| ENST00000549247.6:n.752T>C | ||
| ENST00000551114.2:n.655T>C | ||
| ENST00000553106.5:c.993T>C | ENSP00000448059.1:p.Phe331= | |
| ENST00000635477.1:c.97T>C | ||
| ENST00000635528.1:n.508T>C | ||
| NM_000277.1:c.993T>C | NP_000268.1:p.Phe331= | |
| XM_011538422.1:c.936T>C | XP_011536724.1:p.Phe312= | |
| NM_000277.2:c.993T>C | NP_000268.1:p.Phe331= | |
| NM_001354304.1:c.993T>C | NP_001341233.1:p.Phe331= | |
| NM_000277.3:c.993T>C MANE Select | NP_000268.1:p.Phe331= | |
| NM_001354304.2:c.993T>C | NP_001341233.1:p.Phe331= |