Linked Data
ClinVar Variation Id:
1919314
ClinVar RCV Id:
RCV002603845
dbSNP Id:
rs746835403
ExAC:
9:32550843 G / T
gnomAD v2:
9-32550843-G-T
gnomAD v3:
9-32550845-G-T
gnomAD v4:
9-32550845-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550845G>T , CM000671.2:g.32550845G>T | GRCh38 |
| NC_000009.11:g.32550843G>T , CM000671.1:g.32550843G>T | GRCh37 |
| NC_000009.10:g.32540843G>T | NCBI36 |
| NG_017050.1:g.6780C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.127C>A MANE Select | ENSP00000353735.2:p.Arg43= | |
| ENST00000680198.1:c.127C>A | ENSP00000505143.1:p.Arg43= | |
| ENST00000681750.1:c.-116C>A | ENSP00000506413.1:n.-116C>A | |
| ENST00000360538.6:c.127C>A | ENSP00000353735.2:p.Arg43= | |
| ENST00000379858.1:c.3+1589C>A | ENSP00000369187.1:n.3+1589C>A | |
| NM_001195622.1:c.3+1589C>A | NP_001182551.1:n.3+1589C>A | |
| NM_005802.4:c.127C>A | NP_005793.2:p.Arg43= | |
| NM_005802.5:c.127C>A MANE Select | NP_005793.2:p.Arg43= | |
| NM_001195622.2:c.3+1589C>A | NP_001182551.1:n.3+1589C>A |