Linked Data
dbSNP Id:
rs781807470
ExAC:
3:50293634 G / A
gnomAD v2:
3-50293634-G-A
gnomAD v3:
3-50256202-G-A
gnomAD v4:
3-50256202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256202G>A , CM000665.2:g.50256202G>A | GRCh38 |
| NC_000003.11:g.50293634G>A , CM000665.1:g.50293634G>A | GRCh37 |
| NC_000003.10:g.50268638G>A | NCBI36 |
| NG_016002.2:g.34515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.475G>A MANE Select | ENSP00000312999.6:p.Asp159Asn | |
| ENST00000266027.9:c.319G>A | ENSP00000266027.6:p.Asp107Asn | |
| ENST00000313601.10:c.475G>A | ENSP00000312999.6:p.Asp159Asn | |
| ENST00000422163.5:c.427G>A | ENSP00000406871.1:p.Asp143Asn | |
| ENST00000440628.5:c.319G>A | ENSP00000395736.1:p.Asp107Asn | |
| ENST00000441156.5:c.*3G>A | ENSP00000394321.1:n.*3G>A | |
| ENST00000446079.5:c.*110G>A | ENSP00000406065.1:n.*110G>A | |
| ENST00000451956.1:c.364G>A | ENSP00000406369.1:p.Asp122Asn | |
| ENST00000468422.1:n.42G>A | ||
| ENST00000490122.5:n.1302G>A | ||
| ENST00000491100.5:n.2291G>A | ||
| NM_001166425.1:c.364G>A | NP_001159897.1:p.Asp122Asn | |
| NM_001282617.1:c.319G>A | NP_001269546.1:p.Asp107Asn | |
| NM_001282618.1:c.232G>A | NP_001269547.1:p.Asp78Asn | |
| NM_001282619.1:c.427G>A | NP_001269548.1:p.Asp143Asn | |
| NM_001282620.1:c.427G>A | NP_001269549.1:p.Asp143Asn | |
| NM_002070.3:c.475G>A | NP_002061.1:p.Asp159Asn | |
| NM_002070.4:c.475G>A MANE Select | NP_002061.1:p.Asp159Asn | |
| NM_001166425.2:c.364G>A | NP_001159897.1:p.Asp122Asn | |
| NM_001282618.2:c.232G>A | NP_001269547.1:p.Asp78Asn | |
| NM_001282619.2:c.427G>A | NP_001269548.1:p.Asp143Asn | |
| NM_001282620.2:c.427G>A | NP_001269549.1:p.Asp143Asn | |
| NM_001282617.2:c.319G>A | NP_001269546.1:p.Asp107Asn |