Linked Data
ClinVar Variation Id:
288757
ClinVar RCV Id:
RCV000380884
dbSNP Id:
rs377441732
ExAC:
3:187003747 C / A
gnomAD v2:
3-187003747-C-A
gnomAD v3:
3-187285959-C-A
gnomAD v4:
3-187285959-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187285959C>A , CM000665.2:g.187285959C>A | GRCh38 |
| NC_000003.11:g.187003747C>A , CM000665.1:g.187003747C>A | GRCh37 |
| NC_000003.10:g.188486441C>A | NCBI36 |
| NG_029440.1:g.11064G>T , LRG_349:g.11064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296280.11:c.103G>T MANE Select | ENSP00000296280.7:p.Gly35Cys | |
| ENST00000337774.10:c.103G>T MANE Plus Clinical | ENSP00000336792.5:p.Gly35Cys | |
| ENST00000169293.10:c.103G>T | ENSP00000169293.6:p.Gly35Cys | |
| ENST00000296280.10:c.103G>T | ENSP00000296280.6:p.Gly35Cys | |
| ENST00000337774.9:c.103G>T | ENSP00000336792.5:p.Gly35Cys | |
| ENST00000392470.6:c.25G>T | ENSP00000376262.2:p.Gly9Cys | |
| ENST00000392472.6:c.-103+5669G>T | ENSP00000376264.2:n.-103+5669G>T | |
| ENST00000392475.2:c.124G>T | ENSP00000376267.2:p.Gly42Cys | |
| ENST00000425937.1:c.25G>T | ENSP00000409047.1:p.Gly9Cys | |
| ENST00000439271.1:c.181G>T | ENSP00000412021.1:p.Gly61Cys | |
| ENST00000460839.5:n.50G>T | ||
| ENST00000495249.1:n.66+5730G>T | ||
| NM_001031849.2:c.103G>T , LRG_349t1:c.103G>T | NP_001027019.1:p.Gly35Cys | |
| NM_001879.5:c.103G>T , LRG_349t2:c.103G>T | NP_001870.3:p.Gly35Cys | |
| NM_139125.3:c.103G>T , LRG_349t3:c.103G>T | NP_624302.1:p.Gly35Cys | |
| NR_033519.1:n.395+5669G>T | ||
| XM_006713700.2:c.25G>T | XP_006713763.1:p.Gly9Cys | |
| XM_006713701.1:c.25G>T | XP_006713764.1:p.Gly9Cys | |
| XM_011512989.1:c.124G>T | XP_011511291.1:p.Gly42Cys | |
| XM_011512990.1:c.124G>T | XP_011511292.1:p.Gly42Cys | |
| XM_011512991.1:c.124G>T | XP_011511293.1:p.Gly42Cys | |
| XM_006713701.2:c.25G>T | XP_006713764.1:p.Gly9Cys | |
| XM_011512989.2:c.124G>T | XP_011511291.1:p.Gly42Cys | |
| XM_011512990.2:c.124G>T | XP_011511292.1:p.Gly42Cys | |
| XM_011512991.2:c.124G>T | XP_011511293.1:p.Gly42Cys | |
| XM_017006869.1:c.25G>T | XP_016862358.1:p.Gly9Cys | |
| XM_017006870.2:c.144+5669G>T | XP_016862359.1:n.144+5669G>T | |
| XM_017006871.1:c.124G>T | XP_016862360.1:p.Gly42Cys | |
| XM_017006872.1:c.-507G>T | XP_016862361.1:n.-507G>T | |
| NM_139125.4:c.103G>T MANE Select | NP_624302.1:p.Gly35Cys | |
| NR_033519.2:n.110+5669G>T | ||
| NM_001031849.3:c.103G>T | NP_001027019.1:p.Gly35Cys | |
| NM_001879.6:c.103G>T MANE Plus Clinical | NP_001870.3:p.Gly35Cys |