Linked Data
ClinVar Variation Id:
45123
dbSNP Id:
rs121913535
gnomAD v2:
12-25398282-C-A
PubMed:
PMID:12460918
PMID:15696205
PMID:16361624
PMID:16618717
PMID:18316791
PMID:18794081
PMID:19114683
PMID:19679400
PMID:20921462
PMID:20921465
PMID:21079152
PMID:21228335
PMID:25157968
CIViC:
CA135570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25245348C>A , CM000674.2:g.25245348C>A | GRCh38 |
| NC_000012.11:g.25398282C>A , CM000674.1:g.25398282C>A | GRCh37 |
| NC_000012.10:g.25289549C>A | NCBI36 |
| NG_007524.1:g.10573G>T | |
| NG_007524.2:g.10656G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556131.2:c.37G>T | ENSP00000451856.1:p.Gly13Cys | |
| ENST00000557334.6:c.37G>T | ENSP00000452512.1:p.Gly13Cys | |
| ENST00000685328.1:c.37G>T | ENSP00000508921.1:p.Gly13Cys | |
| ENST00000686877.1:c.37G>T | ENSP00000510431.1:p.Gly13Cys | |
| ENST00000686969.1:c.37G>T | ENSP00000510479.1:p.Gly13Cys | |
| ENST00000687356.1:c.37G>T | ENSP00000510511.1:p.Gly13Cys | |
| ENST00000688940.1:c.37G>T | ENSP00000509238.1:p.Gly13Cys | |
| ENST00000690804.1:c.37G>T | ENSP00000508568.1:p.Gly13Cys | |
| ENST00000692768.1:c.-88+5403G>T | ENSP00000510254.1:n.-88+5403G>T | |
| ENST00000693229.1:c.37G>T | ENSP00000509223.1:p.Gly13Cys | |
| ENST00000256078.10:c.37G>T MANE Plus Clinical | ENSP00000256078.5:p.Gly13Cys | |
| ENST00000311936.8:c.37G>T MANE Select | ENSP00000308495.3:p.Gly13Cys | |
| ENST00000256078.8:c.37G>T | ENSP00000256078.4:p.Gly13Cys | |
| ENST00000311936.7:c.37G>T | ENSP00000308495.3:p.Gly13Cys | |
| ENST00000556131.1:c.37G>T | ENSP00000451856.1:p.Gly13Cys | |
| ENST00000557334.5:c.37G>T | ENSP00000452512.1:p.Gly13Cys | |
| NM_004985.4:c.37G>T | NP_004976.2:p.Gly13Cys | |
| NM_033360.3:c.37G>T | NP_203524.1:p.Gly13Cys | |
| XM_006719069.2:c.37G>T | XP_006719132.1:p.Gly13Cys | |
| XM_011520653.1:c.37G>T | XP_011518955.1:p.Gly13Cys | |
| XM_006719069.4:c.37G>T | XP_006719132.1:p.Gly13Cys | |
| XM_011520653.3:c.37G>T | XP_011518955.1:p.Gly13Cys | |
| NM_001369786.1:c.37G>T | NP_001356715.1:p.Gly13Cys | |
| NM_001369787.1:c.37G>T | NP_001356716.1:p.Gly13Cys | |
| NM_004985.5:c.37G>T MANE Select | NP_004976.2:p.Gly13Cys | |
| NM_033360.4:c.37G>T MANE Plus Clinical | NP_203524.1:p.Gly13Cys |