Linked Data
dbSNP Id:
rs750344846
ExAC:
8:134145904 G / A
gnomAD v2:
8-134145904-G-A
gnomAD v4:
8-133133660-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133660G>A , CM000670.2:g.133133660G>A | GRCh38 |
| NC_000008.10:g.134145904G>A , CM000670.1:g.134145904G>A | GRCh37 |
| NC_000008.9:g.134215086G>A | NCBI36 |
| NG_015832.1:g.271700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8188G>A MANE Select | ENSP00000220616.4:p.Asp2730Asn | |
| ENST00000220616.8:c.8188G>A | ENSP00000220616.4:p.Asp2730Asn | |
| ENST00000519178.5:c.3554G>A | ||
| ENST00000519543.5:c.2587G>A | ENSP00000430430.1:p.Asp863Asn | |
| ENST00000521107.1:c.400G>A | ENSP00000430161.1:p.Asp134Asn | |
| ENST00000522691.1:n.274G>A | ||
| ENST00000523756.5:c.4843G>A | ||
| NM_003235.4:c.8188G>A | NP_003226.4:p.Asp2730Asn | |
| XM_005251038.3:c.7996G>A | XP_005251095.1:p.Asp2666Asn | |
| XM_006716622.2:c.8125G>A | XP_006716685.1:p.Asp2709Asn | |
| XM_005251038.4:c.7996G>A | XP_005251095.1:p.Asp2666Asn | |
| XM_006716622.3:c.8125G>A | XP_006716685.1:p.Asp2709Asn | |
| XM_017013793.1:c.8122G>A | XP_016869282.1:p.Asp2708Asn | |
| XM_017013794.1:c.8053G>A | XP_016869283.1:p.Asp2685Asn | |
| XM_017013795.1:c.8017G>A | XP_016869284.1:p.Asp2673Asn | |
| XM_017013796.1:c.7969G>A | XP_016869285.1:p.Asp2657Asn | |
| XM_017013797.1:c.7927G>A | XP_016869286.1:p.Asp2643Asn | |
| NM_003235.5:c.8188G>A MANE Select | NP_003226.4:p.Asp2730Asn |