Linked Data
ClinVar Variation Id:
2069073
ClinVar RCV Id:
RCV002961877
dbSNP Id:
rs756012521
ExAC:
3:120389319 G / A
gnomAD v2:
3-120389319-G-A
gnomAD v3:
3-120670472-G-A
gnomAD v4:
3-120670472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670472G>A , CM000665.2:g.120670472G>A | GRCh38 |
| NC_000003.11:g.120389319G>A , CM000665.1:g.120389319G>A | GRCh37 |
| NC_000003.10:g.121872009G>A | NCBI36 |
| NG_011957.1:g.17010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.237C>T MANE Select | ENSP00000283871.5:p.Gly79= | |
| ENST00000283871.9:c.237C>T | ENSP00000283871.5:p.Gly79= | |
| ENST00000466528.5:n.263C>T | ||
| ENST00000476082.2:c.114C>T | ENSP00000419560.2:p.Gly38= | |
| ENST00000485313.5:n.345C>T | ||
| ENST00000488183.5:n.495C>T | ||
| NM_000187.3:c.237C>T | NP_000178.2:p.Gly79= | |
| XM_005247412.1:c.237C>T | XP_005247469.1:p.Gly79= | |
| XM_005247413.1:c.237C>T | XP_005247470.1:p.Gly79= | |
| XM_005247414.3:c.237C>T | XP_005247471.1:p.Gly79= | |
| XM_011512746.1:c.237C>T | XP_011511048.1:p.Gly79= | |
| XM_005247412.2:c.237C>T | XP_005247469.1:p.Gly79= | |
| XM_005247413.2:c.237C>T | XP_005247470.1:p.Gly79= | |
| XM_005247414.5:c.237C>T | XP_005247471.1:p.Gly79= | |
| XM_011512746.2:c.237C>T | XP_011511048.1:p.Gly79= | |
| XM_017006277.2:c.-187C>T | XP_016861766.1:n.-187C>T | |
| NM_000187.4:c.237C>T MANE Select | NP_000178.2:p.Gly79= |