Linked Data
ClinVar Variation Id:
375963
dbSNP Id:
rs121913527
gnomAD v3:
12-25225628-C-G
gnomAD v4:
12-25225628-C-G
CIViC:
CA16602441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225628C>G , CM000674.2:g.25225628C>G | GRCh38 |
| NC_000012.11:g.25378562C>G , CM000674.1:g.25378562C>G | GRCh37 |
| NC_000012.10:g.25269829C>G | NCBI36 |
| NG_007524.1:g.30293G>C | |
| NG_007524.2:g.30376G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15717G>C | ENSP00000452512.1:n.112-15717G>C | |
| ENST00000685328.1:c.436G>C | ENSP00000508921.1:p.Ala146Pro | |
| ENST00000686877.1:c.*407G>C | ENSP00000510431.1:n.*407G>C | |
| ENST00000687356.1:c.*134G>C | ENSP00000510511.1:n.*134G>C | |
| ENST00000688228.1:n.910G>C | ||
| ENST00000688940.1:c.436G>C | ENSP00000509238.1:p.Ala146Pro | |
| ENST00000690406.1:c.146G>C | ||
| ENST00000690804.1:c.*397G>C | ENSP00000508568.1:n.*397G>C | |
| ENST00000692768.1:c.238G>C | ENSP00000510254.1:p.Ala80Pro | |
| ENST00000693229.1:c.361G>C | ENSP00000509223.1:p.Ala121Pro | |
| ENST00000256078.10:c.436G>C MANE Plus Clinical | ENSP00000256078.5:p.Ala146Pro | |
| ENST00000311936.8:c.436G>C MANE Select | ENSP00000308495.3:p.Ala146Pro | |
| ENST00000256078.8:c.436G>C | ENSP00000256078.4:p.Ala146Pro | |
| ENST00000311936.7:c.436G>C | ENSP00000308495.3:p.Ala146Pro | |
| ENST00000557334.5:c.112-15717G>C | ENSP00000452512.1:n.112-15717G>C | |
| NM_004985.4:c.436G>C | NP_004976.2:p.Ala146Pro | |
| NM_033360.3:c.436G>C | NP_203524.1:p.Ala146Pro | |
| XM_006719069.2:c.436G>C | XP_006719132.1:p.Ala146Pro | |
| XM_011520653.1:c.436G>C | XP_011518955.1:p.Ala146Pro | |
| XM_006719069.4:c.436G>C | XP_006719132.1:p.Ala146Pro | |
| XM_011520653.3:c.436G>C | XP_011518955.1:p.Ala146Pro | |
| NM_001369786.1:c.436G>C | NP_001356715.1:p.Ala146Pro | |
| NM_001369787.1:c.436G>C | NP_001356716.1:p.Ala146Pro | |
| NM_004985.5:c.436G>C MANE Select | NP_004976.2:p.Ala146Pro | |
| NM_033360.4:c.436G>C MANE Plus Clinical | NP_203524.1:p.Ala146Pro |