Linked Data
dbSNP Id:
rs372084813
ExAC:
3:120365129 C / T
gnomAD v2:
3-120365129-C-T
gnomAD v3:
3-120646282-C-T
gnomAD v4:
3-120646282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120646282C>T , CM000665.2:g.120646282C>T | GRCh38 |
| NC_000003.11:g.120365129C>T , CM000665.1:g.120365129C>T | GRCh37 |
| NC_000003.10:g.121847819C>T | NCBI36 |
| NG_011957.1:g.41200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.634G>A MANE Select | ENSP00000283871.5:p.Asp212Asn | |
| ENST00000283871.9:c.634G>A | ENSP00000283871.5:p.Asp212Asn | |
| ENST00000475447.2:c.165G>A | ||
| ENST00000492108.5:c.180+691G>A | ENSP00000419838.1:n.180+691G>A | |
| ENST00000494453.1:c.54G>A | ||
| NM_000187.3:c.634G>A | NP_000178.2:p.Asp212Asn | |
| XM_005247412.1:c.549+691G>A | XP_005247469.1:n.549+691G>A | |
| XM_005247413.1:c.634G>A | XP_005247470.1:p.Asp212Asn | |
| XM_005247414.3:c.634G>A | XP_005247471.1:p.Asp212Asn | |
| XM_011512746.1:c.634G>A | XP_011511048.1:p.Asp212Asn | |
| XM_005247412.2:c.549+691G>A | XP_005247469.1:n.549+691G>A | |
| XM_005247413.2:c.634G>A | XP_005247470.1:p.Asp212Asn | |
| XM_005247414.5:c.634G>A | XP_005247471.1:p.Asp212Asn | |
| XM_011512746.2:c.634G>A | XP_011511048.1:p.Asp212Asn | |
| XM_017006277.2:c.211G>A | XP_016861766.1:p.Asp71Asn | |
| NM_000187.4:c.634G>A MANE Select | NP_000178.2:p.Asp212Asn |