Linked Data
ClinVar Variation Id:
2893439
ClinVar RCV Id:
RCV003619598
gnomAD v4:
12-114672069-C-T
MyVariant Identifiers:
chr12:g.115109874C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114672069C>T , CM000674.2:g.114672069C>T | GRCh38 |
| NC_000012.11:g.115109874C>T , CM000674.1:g.115109874C>T | GRCh37 |
| NC_000012.10:g.113594257C>T | NCBI36 |
| NG_008315.1:g.17096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1944G>A MANE Select | ENSP00000257567.2:p.Gly648= | |
| ENST00000257566.7:c.2004G>A | ENSP00000257566.3:p.Gly668= | |
| ENST00000349155.6:c.1944G>A | ENSP00000257567.2:p.Gly648= | |
| ENST00000613550.1:c.1941G>A | ENSP00000480048.1:p.Gly647= | |
| NM_005996.3:c.1944G>A | NP_005987.3:p.Gly648= | |
| NM_016569.3:c.2004G>A | NP_057653.3:p.Gly668= | |
| NM_005996.4:c.1944G>A MANE Select | NP_005987.3:p.Gly648= | |
| NM_016569.4:c.2004G>A | NP_057653.3:p.Gly668= |