Linked Data
ClinVar Variation Id:
2713934
ClinVar RCV Id:
RCV003550644
gnomAD v4:
12-57766114-G-C
MyVariant Identifiers:
chr12:g.58159897G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766114G>C , CM000674.2:g.57766114G>C | GRCh38 |
| NC_000012.11:g.58159897G>C , CM000674.1:g.58159897G>C | GRCh37 |
| NC_000012.10:g.56446164G>C | NCBI36 |
| NG_007076.1:g.6080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.191C>G | ||
| ENST00000713544.1:c.279C>G | ENSP00000518840.1:p.Leu93= | |
| ENST00000713545.1:c.279C>G | ENSP00000518841.1:p.Leu93= | |
| ENST00000228606.9:c.279C>G MANE Select | ENSP00000228606.4:p.Leu93= | |
| ENST00000228606.8:c.279C>G | ENSP00000228606.4:p.Leu93= | |
| ENST00000546496.1:n.107C>G | ||
| ENST00000546609.1:c.191C>G | ||
| ENST00000547344.5:n.333C>G | ||
| ENST00000552186.1:n.398C>G | ||
| NM_000785.3:c.279C>G | NP_000776.1:p.Leu93= | |
| NM_000785.4:c.279C>G MANE Select | NP_000776.1:p.Leu93= |