Linked Data
ClinVar Variation Id:
2094148
ClinVar RCV Id:
RCV003021197
gnomAD v4:
12-123744322-A-G
MyVariant Identifiers:
chr12:g.124228869A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744322A>G , CM000674.2:g.123744322A>G | GRCh38 |
| NC_000012.11:g.124228869A>G , CM000674.1:g.124228869A>G | GRCh37 |
| NC_000012.10:g.122794822A>G | NCBI36 |
| NG_012743.1:g.37005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1311A>G MANE Select | ENSP00000332247.2:p.Leu437= | |
| ENST00000540368.6:n.1342A>G | ||
| ENST00000674794.1:c.1399A>G | ||
| ENST00000675260.1:n.586A>G | ||
| ENST00000675344.1:c.*332A>G | ENSP00000501953.1:n.*332A>G | |
| ENST00000330342.7:c.1311A>G | ENSP00000332247.2:p.Leu437= | |
| ENST00000504192.2:c.921A>G | ENSP00000443441.1:p.Leu307= | |
| ENST00000536426.1:n.328A>G | ||
| ENST00000545059.5:n.3947A>G | ||
| NM_012463.3:c.1311A>G | NP_036595.2:p.Leu437= | |
| XM_005253563.1:c.1311A>G | XP_005253620.1:p.Leu437= | |
| XM_006719317.2:c.798A>G | XP_006719380.1:p.Leu266= | |
| XM_006719318.2:c.489A>G | XP_006719381.1:p.Leu163= | |
| XR_429088.1:n.1474A>G | ||
| XM_024448910.1:c.1311A>G | XP_024304678.1:p.Leu437= | |
| XM_024448911.1:c.798A>G | XP_024304679.1:p.Leu266= | |
| XM_024448912.1:c.489A>G | XP_024304680.1:p.Leu163= | |
| NM_012463.4:c.1311A>G MANE Select | NP_036595.2:p.Leu437= |