Linked Data
ClinVar Variation Id:
2627689
ClinVar RCV Id:
RCV003388983
dbSNP Id:
rs754802510
ExAC:
3:120365149 C / T
gnomAD v2:
3-120365149-C-T
gnomAD v4:
3-120646302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120646302C>T , CM000665.2:g.120646302C>T | GRCh38 |
| NC_000003.11:g.120365149C>T , CM000665.1:g.120365149C>T | GRCh37 |
| NC_000003.10:g.121847839C>T | NCBI36 |
| NG_011957.1:g.41180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.614G>A MANE Select | ENSP00000283871.5:p.Gly205Asp | |
| ENST00000283871.9:c.614G>A | ENSP00000283871.5:p.Gly205Asp | |
| ENST00000475447.2:c.145G>A | ||
| ENST00000492108.5:c.180+671G>A | ENSP00000419838.1:n.180+671G>A | |
| ENST00000494453.1:c.34G>A | ||
| NM_000187.3:c.614G>A | NP_000178.2:p.Gly205Asp | |
| XM_005247412.1:c.549+671G>A | XP_005247469.1:n.549+671G>A | |
| XM_005247413.1:c.614G>A | XP_005247470.1:p.Gly205Asp | |
| XM_005247414.3:c.614G>A | XP_005247471.1:p.Gly205Asp | |
| XM_011512746.1:c.614G>A | XP_011511048.1:p.Gly205Asp | |
| XM_005247412.2:c.549+671G>A | XP_005247469.1:n.549+671G>A | |
| XM_005247413.2:c.614G>A | XP_005247470.1:p.Gly205Asp | |
| XM_005247414.5:c.614G>A | XP_005247471.1:p.Gly205Asp | |
| XM_011512746.2:c.614G>A | XP_011511048.1:p.Gly205Asp | |
| XM_017006277.2:c.191G>A | XP_016861766.1:p.Gly64Asp | |
| NM_000187.4:c.614G>A MANE Select | NP_000178.2:p.Gly205Asp |