Linked Data
dbSNP Id:
rs765386229
ExAC:
19:50333151 G / A
gnomAD v2:
19-50333151-G-A
gnomAD v4:
19-49829894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829894G>A , CM000681.2:g.49829894G>A | GRCh38 |
| NC_000019.9:g.50333151G>A , CM000681.1:g.50333151G>A | GRCh37 |
| NC_000019.8:g.55024963G>A | NCBI36 |
| NG_017091.1:g.16616G>A , LRG_368:g.16616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.634G>A | ENSP00000470692.3:p.Asp212Asn | |
| ENST00000312865.10:c.634G>A MANE Select | ENSP00000326767.5:p.Asp212Asn | |
| ENST00000538643.5:c.181-617G>A | ENSP00000437496.1:n.181-617G>A | |
| ENST00000595185.5:c.634G>A | ENSP00000470027.1:p.Asp212Asn | |
| ENST00000612791.4:c.632G>A | ENSP00000479851.1:p.Arg211Lys | |
| ENST00000612854.4:c.450+879G>A | ENSP00000482155.1:n.450+879G>A | |
| ENST00000617849.4:c.158-845G>A | ENSP00000484882.1:n.158-845G>A | |
| ENST00000618715.4:c.158-844G>A | ENSP00000480731.1:n.158-844G>A | |
| ENST00000620467.4:c.634G>A | ENSP00000482659.1:p.Asp212Asn | |
| ENST00000622402.4:c.146-5933G>A | ENSP00000478074.1:n.146-5933G>A | |
| NM_030973.3:c.634G>A , LRG_368t1:c.634G>A | NP_112235.2:p.Asp212Asn | |
| XM_011527353.1:c.634G>A | XP_011525655.1:p.Asp212Asn | |
| NM_001378355.1:c.634G>A | NP_001365284.1:p.Asp212Asn | |
| NM_030973.4:c.634G>A MANE Select | NP_112235.2:p.Asp212Asn |