Linked Data
dbSNP Id:
rs765452552
ExAC:
3:120357386 G / A
gnomAD v2:
3-120357386-G-A
gnomAD v4:
3-120638539-G-A
COSMIC:
COSM1722035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638539G>A , CM000665.2:g.120638539G>A | GRCh38 |
| NC_000003.11:g.120357386G>A , CM000665.1:g.120357386G>A | GRCh37 |
| NC_000003.10:g.121840076G>A | NCBI36 |
| NG_011957.1:g.48943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.922C>T MANE Select | ENSP00000283871.5:p.Pro308Ser | |
| ENST00000283871.9:c.922C>T | ENSP00000283871.5:p.Pro308Ser | |
| ENST00000470321.1:n.262C>T | ||
| ENST00000475447.2:c.307+3050C>T | ||
| ENST00000492108.5:c.285+3050C>T | ENSP00000419838.1:n.285+3050C>T | |
| ENST00000494453.1:c.342C>T | ||
| NM_000187.3:c.922C>T | NP_000178.2:p.Pro308Ser | |
| XM_005247412.1:c.697C>T | XP_005247469.1:p.Pro233Ser | |
| XM_005247413.1:c.922C>T | XP_005247470.1:p.Pro308Ser | |
| XM_011512746.1:c.879+3050C>T | XP_011511048.1:n.879+3050C>T | |
| XM_005247412.2:c.697C>T | XP_005247469.1:p.Pro233Ser | |
| XM_005247413.2:c.922C>T | XP_005247470.1:p.Pro308Ser | |
| XM_011512746.2:c.879+3050C>T | XP_011511048.1:n.879+3050C>T | |
| XM_017006277.2:c.499C>T | XP_016861766.1:p.Pro167Ser | |
| NM_000187.4:c.922C>T MANE Select | NP_000178.2:p.Pro308Ser |