Linked Data
ClinVar Variation Id:
3001914
ClinVar RCV Id:
RCV003862977
gnomAD v4:
12-76345923-G-A
MyVariant Identifiers:
chr12:g.76739703G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345923G>A , CM000674.2:g.76345923G>A | GRCh38 |
| NC_000012.11:g.76739703G>A , CM000674.1:g.76739703G>A | GRCh37 |
| NC_000012.10:g.75263834G>A | NCBI36 |
| NG_016357.1:g.7520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2062C>T MANE Select | ENSP00000497413.1:p.Leu688= | |
| ENST00000393262.3:c.2062C>T | ENSP00000376946.3:p.Leu688= | |
| NM_024685.3:c.2062C>T | NP_078961.3:p.Leu688= | |
| NM_024685.4:c.2062C>T MANE Select | NP_078961.3:p.Leu688= |