Linked Data
dbSNP Id:
rs758461515
ExAC:
6:30691722 G / A
gnomAD v2:
6-30691722-G-A
gnomAD v4:
6-30723945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723945G>A , CM000668.2:g.30723945G>A | GRCh38 |
| NC_000006.11:g.30691722G>A , CM000668.1:g.30691722G>A | GRCh37 |
| NC_000006.10:g.30799701G>A | NCBI36 |
| NG_034142.1:g.8745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.883G>A MANE Select | ENSP00000339001.7:p.Asp295Asn | |
| ENST00000680530.1:n.1745G>A | ||
| ENST00000681421.1:n.1949G>A | ||
| ENST00000681435.1:c.667G>A | ENSP00000506665.1:p.Asp223Asn | |
| ENST00000327892.12:c.883G>A | ENSP00000339001.7:p.Asp295Asn | |
| ENST00000330914.7:c.667G>A | ENSP00000365578.2:p.Asp223Asn | |
| ENST00000396384.1:c.667G>A | ENSP00000379668.1:p.Asp223Asn | |
| ENST00000396389.5:c.829G>A | ENSP00000379672.1:p.Asp277Asn | |
| NM_001293212.1:c.943G>A | NP_001280141.1:p.Asp315Asn | |
| NM_001293213.1:c.370-93G>A | NP_001280142.1:n.370-93G>A | |
| NM_001293214.1:c.751G>A | NP_001280143.1:p.Asp251Asn | |
| NM_001293215.1:c.667G>A | NP_001280144.1:p.Asp223Asn | |
| NM_001293216.1:c.667G>A | NP_001280145.1:p.Asp223Asn | |
| NM_178014.3:c.883G>A | NP_821133.1:p.Asp295Asn | |
| NR_120608.1:n.590G>A | ||
| NM_178014.4:c.883G>A MANE Select | NP_821133.1:p.Asp295Asn | |
| NM_001293212.2:c.943G>A | NP_001280141.1:p.Asp315Asn | |
| NM_001293213.2:c.370-93G>A | NP_001280142.1:n.370-93G>A | |
| NM_001293214.2:c.751G>A | NP_001280143.1:p.Asp251Asn | |
| NM_001293215.2:c.667G>A | NP_001280144.1:p.Asp223Asn | |
| NM_001293216.2:c.667G>A | NP_001280145.1:p.Asp223Asn | |
| NR_120608.2:n.439G>A |