Linked Data
ClinVar Variation Id:
2177694
ClinVar RCV Id:
RCV002585671
dbSNP Id:
rs2141506058
gnomAD v4:
12-25225689-T-C
MyVariant Identifiers:
chr12:g.25378623T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225689T>C , CM000674.2:g.25225689T>C | GRCh38 |
| NC_000012.11:g.25378623T>C , CM000674.1:g.25378623T>C | GRCh37 |
| NC_000012.10:g.25269890T>C | NCBI36 |
| NG_007524.1:g.30232A>G | |
| NG_007524.2:g.30315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15778A>G | ENSP00000452512.1:n.112-15778A>G | |
| ENST00000685328.1:c.375A>G | ENSP00000508921.1:p.Val125= | |
| ENST00000686877.1:c.*346A>G | ENSP00000510431.1:n.*346A>G | |
| ENST00000687356.1:c.*73A>G | ENSP00000510511.1:n.*73A>G | |
| ENST00000688228.1:n.849A>G | ||
| ENST00000688940.1:c.375A>G | ENSP00000509238.1:p.Val125= | |
| ENST00000690406.1:c.85A>G | ||
| ENST00000690804.1:c.*336A>G | ENSP00000508568.1:n.*336A>G | |
| ENST00000692768.1:c.177A>G | ENSP00000510254.1:p.Val59= | |
| ENST00000693229.1:c.300A>G | ENSP00000509223.1:p.Val100= | |
| ENST00000256078.10:c.375A>G MANE Plus Clinical | ENSP00000256078.5:p.Val125= | |
| ENST00000311936.8:c.375A>G MANE Select | ENSP00000308495.3:p.Val125= | |
| ENST00000256078.8:c.375A>G | ENSP00000256078.4:p.Val125= | |
| ENST00000311936.7:c.375A>G | ENSP00000308495.3:p.Val125= | |
| ENST00000557334.5:c.112-15778A>G | ENSP00000452512.1:n.112-15778A>G | |
| NM_004985.4:c.375A>G | NP_004976.2:p.Val125= | |
| NM_033360.3:c.375A>G | NP_203524.1:p.Val125= | |
| XM_006719069.2:c.375A>G | XP_006719132.1:p.Val125= | |
| XM_011520653.1:c.375A>G | XP_011518955.1:p.Val125= | |
| XM_006719069.4:c.375A>G | XP_006719132.1:p.Val125= | |
| XM_011520653.3:c.375A>G | XP_011518955.1:p.Val125= | |
| NM_001369786.1:c.375A>G | NP_001356715.1:p.Val125= | |
| NM_001369787.1:c.375A>G | NP_001356716.1:p.Val125= | |
| NM_004985.5:c.375A>G MANE Select | NP_004976.2:p.Val125= | |
| NM_033360.4:c.375A>G MANE Plus Clinical | NP_203524.1:p.Val125= |