Linked Data
ClinVar Variation Id:
2815119
ClinVar RCV Id:
RCV003620764
gnomAD v4:
12-114674831-T-C
MyVariant Identifiers:
chr12:g.115112636T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674831T>C , CM000674.2:g.114674831T>C | GRCh38 |
| NC_000012.11:g.115112636T>C , CM000674.1:g.115112636T>C | GRCh37 |
| NC_000012.10:g.113597019T>C | NCBI36 |
| NG_008315.1:g.14334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1044A>G MANE Select | ENSP00000257567.2:p.Leu348= | |
| ENST00000257566.7:c.1104A>G | ENSP00000257566.3:p.Leu368= | |
| ENST00000349155.6:c.1044A>G | ENSP00000257567.2:p.Leu348= | |
| ENST00000613550.1:c.1044A>G | ENSP00000480048.1:p.Leu348= | |
| NM_005996.3:c.1044A>G | NP_005987.3:p.Leu348= | |
| NM_016569.3:c.1104A>G | NP_057653.3:p.Leu368= | |
| NM_005996.4:c.1044A>G MANE Select | NP_005987.3:p.Leu348= | |
| NM_016569.4:c.1104A>G | NP_057653.3:p.Leu368= |