Linked Data
dbSNP Id:
rs778408216
ExAC:
9:32550919 T / C
gnomAD v2:
9-32550919-T-C
gnomAD v4:
9-32550921-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550921T>C , CM000671.2:g.32550921T>C | GRCh38 |
| NC_000009.11:g.32550919T>C , CM000671.1:g.32550919T>C | GRCh37 |
| NC_000009.10:g.32540919T>C | NCBI36 |
| NG_017050.1:g.6704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.51A>G MANE Select | ENSP00000353735.2:p.Glu17= | |
| ENST00000680198.1:c.51A>G | ENSP00000505143.1:p.Glu17= | |
| ENST00000681750.1:c.-192A>G | ENSP00000506413.1:n.-192A>G | |
| ENST00000360538.6:c.51A>G | ENSP00000353735.2:p.Glu17= | |
| ENST00000379858.1:c.3+1513A>G | ENSP00000369187.1:n.3+1513A>G | |
| NM_001195622.1:c.3+1513A>G | NP_001182551.1:n.3+1513A>G | |
| NM_005802.4:c.51A>G | NP_005793.2:p.Glu17= | |
| NM_005802.5:c.51A>G MANE Select | NP_005793.2:p.Glu17= | |
| NM_001195622.2:c.3+1513A>G | NP_001182551.1:n.3+1513A>G |