Linked Data
dbSNP Id:
rs151632
gnomAD v2:
3-38343958-G-A
gnomAD v3:
3-38302467-G-A
gnomAD v4:
3-38302467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38302467G>A , CM000665.2:g.38302467G>A | GRCh38 |
| NC_000003.11:g.38343958G>A , CM000665.1:g.38343958G>A | GRCh37 |
| NC_000003.10:g.38318962G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448498.6:c.1-3560G>A MANE Select | ENSP00000396283.1:n.1-3560G>A | |
| ENST00000448498.5:c.1-3560G>A | ENSP00000396283.1:n.1-3560G>A | |
| ENST00000466887.5:c.-119-3837G>A | ENSP00000442528.1:n.-119-3837G>A | |
| XM_005265584.2:c.1-3560G>A | XP_005265641.1:n.1-3560G>A | |
| XM_005265585.3:c.1-3560G>A | XP_005265642.1:n.1-3560G>A | |
| XM_006713416.2:c.244-3560G>A | XP_006713479.2:n.244-3560G>A | |
| XM_006713417.2:c.244-3560G>A | XP_006713480.2:n.244-3560G>A | |
| XM_006713418.2:c.244-3560G>A | XP_006713481.2:n.244-3560G>A | |
| XM_011534245.1:c.1-3560G>A | XP_011532547.1:n.1-3560G>A | |
| XM_011534246.1:c.244-3560G>A | XP_011532548.1:n.244-3560G>A | |
| XM_011534247.1:c.244-3560G>A | XP_011532549.1:n.244-3560G>A | |
| XR_940514.1:n.1025-3560G>A | ||
| XR_940515.1:n.1025-3560G>A | ||
| NM_001320033.1:c.1-3560G>A | NP_001306962.1:n.1-3560G>A | |
| XM_005265585.4:c.1-3560G>A | XP_005265642.1:n.1-3560G>A | |
| XM_006713416.3:c.244-3560G>A | XP_006713479.2:n.244-3560G>A | |
| XM_006713417.3:c.244-3560G>A | XP_006713480.2:n.244-3560G>A | |
| XM_006713418.4:c.244-3560G>A | XP_006713481.2:n.244-3560G>A | |
| XM_011534245.2:c.1-3560G>A | XP_011532547.1:n.1-3560G>A | |
| XM_011534247.2:c.244-3560G>A | XP_011532549.1:n.244-3560G>A | |
| NM_001320033.2:c.1-3560G>A MANE Select | NP_001306962.1:n.1-3560G>A |