Linked Data
ClinVar Variation Id:
3165
ClinVar RCV Id:
RCV000003315
dbSNP Id:
rs28942100
ExAC:
3:120363252 G / A
gnomAD v2:
3-120363252-G-A
gnomAD v3:
3-120644405-G-A
gnomAD v4:
3-120644405-G-A
COSMIC:
COSM5736720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120644405G>A , CM000665.2:g.120644405G>A | GRCh38 |
| NC_000003.11:g.120363252G>A , CM000665.1:g.120363252G>A | GRCh37 |
| NC_000003.10:g.121845942G>A | NCBI36 |
| NG_011957.1:g.43077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.688C>T MANE Select | ENSP00000283871.5:p.Pro230Ser | |
| ENST00000283871.9:c.688C>T | ENSP00000283871.5:p.Pro230Ser | |
| ENST00000475447.2:c.202+193C>T | ||
| ENST00000492108.5:c.180+2568C>T | ENSP00000419838.1:n.180+2568C>T | |
| ENST00000494453.1:c.108C>T | ||
| NM_000187.3:c.688C>T | NP_000178.2:p.Pro230Ser | |
| XM_005247412.1:c.549+2568C>T | XP_005247469.1:n.549+2568C>T | |
| XM_005247413.1:c.688C>T | XP_005247470.1:p.Pro230Ser | |
| XM_011512746.1:c.688C>T | XP_011511048.1:p.Pro230Ser | |
| XM_005247412.2:c.549+2568C>T | XP_005247469.1:n.549+2568C>T | |
| XM_005247413.2:c.688C>T | XP_005247470.1:p.Pro230Ser | |
| XM_005247414.5:c.*162C>T | XP_005247471.1:n.*162C>T | |
| XM_011512746.2:c.688C>T | XP_011511048.1:p.Pro230Ser | |
| XM_017006277.2:c.265C>T | XP_016861766.1:p.Pro89Ser | |
| NM_000187.4:c.688C>T MANE Select | NP_000178.2:p.Pro230Ser |