Linked Data
ClinVar Variation Id:
30079
dbSNP Id:
rs387906755
gnomAD v2:
9-94060305-C-T
gnomAD v4:
9-91298023-C-T
PubMed:
PMID:20855850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91298023C>T , CM000671.2:g.91298023C>T | GRCh38 |
| NC_000009.11:g.94060305C>T , CM000671.1:g.94060305C>T | GRCh37 |
| NC_000009.10:g.93100126C>T | NCBI36 |
| NG_008017.1:g.68902G>A , LRG_449:g.68902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.559G>A MANE Select | ENSP00000364883.5:p.Gly187Ser | |
| ENST00000303617.5:c.472G>A | ENSP00000307334.5:p.Gly158Ser | |
| ENST00000375731.8:c.559G>A | ENSP00000364883.4:p.Gly187Ser | |
| ENST00000478465.5:n.719G>A | ||
| NM_001306190.1:c.472G>A | NP_001293119.1:p.Gly158Ser | |
| NM_001698.2:c.559G>A , LRG_449t1:c.559G>A | NP_001689.1:p.Gly187Ser | |
| XM_005252066.2:c.589G>A | XP_005252123.1:p.Gly197Ser | |
| XM_005252067.3:c.589G>A | XP_005252124.1:p.Gly197Ser | |
| XM_005252069.3:c.589G>A | XP_005252126.1:p.Gly197Ser | |
| XM_005252072.1:c.559G>A | XP_005252129.1:p.Gly187Ser | |
| XM_005252073.2:c.97G>A | XP_005252130.1:p.Gly33Ser | |
| XM_006717150.2:c.502G>A | XP_006717213.1:p.Gly168Ser | |
| XM_011518800.1:c.589G>A | XP_011517102.1:p.Gly197Ser | |
| XM_011518801.1:c.235G>A | XP_011517103.1:p.Gly79Ser | |
| XM_011518802.1:c.232G>A | XP_011517104.1:p.Gly78Ser | |
| NM_001351431.1:c.232G>A | NP_001338360.1:p.Gly78Ser | |
| NM_001351432.1:c.232G>A | NP_001338361.1:p.Gly78Ser | |
| NM_001351433.1:c.232G>A | NP_001338362.1:p.Gly78Ser | |
| XM_005252066.3:c.589G>A | XP_005252123.1:p.Gly197Ser | |
| XM_005252067.4:c.589G>A | XP_005252124.1:p.Gly197Ser | |
| XM_005252069.4:c.589G>A | XP_005252126.1:p.Gly197Ser | |
| XM_005252072.2:c.559G>A | XP_005252129.1:p.Gly187Ser | |
| XM_006717150.3:c.502G>A | XP_006717213.1:p.Gly168Ser | |
| XM_011518800.3:c.589G>A | XP_011517102.1:p.Gly197Ser | |
| XM_017014849.1:c.559G>A | XP_016870338.1:p.Gly187Ser | |
| XR_001746328.2:n.642G>A | ||
| XR_001746329.2:n.594G>A | ||
| NM_001698.3:c.559G>A MANE Select | NP_001689.1:p.Gly187Ser | |
| NM_001306190.2:c.472G>A | NP_001293119.1:p.Gly158Ser | |
| NM_001351431.2:c.232G>A | NP_001338360.1:p.Gly78Ser | |
| NM_001351432.2:c.232G>A | NP_001338361.1:p.Gly78Ser | |
| NM_001351433.2:c.232G>A | NP_001338362.1:p.Gly78Ser |