Linked Data
dbSNP Id:
rs17288067
gnomAD v2:
9-32409046-G-A
gnomAD v3:
9-32409048-G-A
gnomAD v4:
9-32409048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32409048G>A , CM000671.2:g.32409048G>A | GRCh38 |
| NC_000009.11:g.32409046G>A , CM000671.1:g.32409046G>A | GRCh37 |
| NC_000009.10:g.32399046G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309951.8:c.404+397G>A MANE Select | ENSP00000309477.5:n.404+397G>A | |
| ENST00000309951.7:c.404+397G>A | ENSP00000309477.5:n.404+397G>A | |
| ENST00000379923.5:c.404+397G>A | ENSP00000369255.1:n.404+397G>A | |
| ENST00000541043.5:c.404+397G>A | ENSP00000438733.2:n.404+397G>A | |
| NM_001278352.1:c.404+397G>A | NP_001265281.1:n.404+397G>A | |
| NM_002197.2:c.404+397G>A | NP_002188.1:n.404+397G>A | |
| XM_005251476.1:c.404+397G>A | XP_005251533.1:n.404+397G>A | |
| XM_011517888.1:c.404+397G>A | XP_011516190.1:n.404+397G>A | |
| NM_001362840.1:c.404+397G>A | NP_001349769.1:n.404+397G>A | |
| XM_011517888.2:c.404+397G>A | XP_011516190.1:n.404+397G>A | |
| NM_002197.3:c.404+397G>A MANE Select | NP_002188.1:n.404+397G>A | |
| NM_001362840.2:c.404+397G>A | NP_001349769.1:n.404+397G>A | |
| NM_001278352.2:c.404+397G>A | NP_001265281.1:n.404+397G>A |