Linked Data
ClinVar Variation Id:
1677688
ClinVar RCV Id:
RCV002224430
dbSNP Id:
rs373500216
gnomAD v4:
12-25225663-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225663G>C , CM000674.2:g.25225663G>C | GRCh38 |
| NC_000012.11:g.25378597G>C , CM000674.1:g.25378597G>C | GRCh37 |
| NC_000012.10:g.25269864G>C | NCBI36 |
| NG_007524.1:g.30258C>G | |
| NG_007524.2:g.30341C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15752C>G | ENSP00000452512.1:n.112-15752C>G | |
| ENST00000685328.1:c.401C>G | ENSP00000508921.1:p.Ala134Gly | |
| ENST00000686877.1:c.*372C>G | ENSP00000510431.1:n.*372C>G | |
| ENST00000687356.1:c.*99C>G | ENSP00000510511.1:n.*99C>G | |
| ENST00000688228.1:n.875C>G | ||
| ENST00000688940.1:c.401C>G | ENSP00000509238.1:p.Ala134Gly | |
| ENST00000690406.1:c.111C>G | ||
| ENST00000690804.1:c.*362C>G | ENSP00000508568.1:n.*362C>G | |
| ENST00000692768.1:c.203C>G | ENSP00000510254.1:p.Ala68Gly | |
| ENST00000693229.1:c.326C>G | ENSP00000509223.1:p.Ala109Gly | |
| ENST00000256078.10:c.401C>G MANE Plus Clinical | ENSP00000256078.5:p.Ala134Gly | |
| ENST00000311936.8:c.401C>G MANE Select | ENSP00000308495.3:p.Ala134Gly | |
| ENST00000256078.8:c.401C>G | ENSP00000256078.4:p.Ala134Gly | |
| ENST00000311936.7:c.401C>G | ENSP00000308495.3:p.Ala134Gly | |
| ENST00000557334.5:c.112-15752C>G | ENSP00000452512.1:n.112-15752C>G | |
| NM_004985.4:c.401C>G | NP_004976.2:p.Ala134Gly | |
| NM_033360.3:c.401C>G | NP_203524.1:p.Ala134Gly | |
| XM_006719069.2:c.401C>G | XP_006719132.1:p.Ala134Gly | |
| XM_011520653.1:c.401C>G | XP_011518955.1:p.Ala134Gly | |
| XM_006719069.4:c.401C>G | XP_006719132.1:p.Ala134Gly | |
| XM_011520653.3:c.401C>G | XP_011518955.1:p.Ala134Gly | |
| NM_001369786.1:c.401C>G | NP_001356715.1:p.Ala134Gly | |
| NM_001369787.1:c.401C>G | NP_001356716.1:p.Ala134Gly | |
| NM_004985.5:c.401C>G MANE Select | NP_004976.2:p.Ala134Gly | |
| NM_033360.4:c.401C>G MANE Plus Clinical | NP_203524.1:p.Ala134Gly |