Linked Data
ClinVar Variation Id:
2039801
ClinVar RCV Id:
RCV002886032
dbSNP Id:
rs1163018088
gnomAD v2:
11-74204274-G-T
gnomAD v3:
11-74493229-G-T
gnomAD v4:
11-74493229-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493229G>T , CM000673.2:g.74493229G>T | GRCh38 |
| NC_000011.9:g.74204274G>T , CM000673.1:g.74204274G>T | GRCh37 |
| NC_000011.8:g.73881922G>T | NCBI36 |
| NG_051333.1:g.5485C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.466+9C>A MANE Select | ENSP00000309463.4:n.466+9C>A | |
| ENST00000310109.4:c.466+9C>A | ENSP00000309463.4:n.466+9C>A | |
| ENST00000527115.1:c.87C>A | ||
| ENST00000528085.1:c.181+238C>A | ||
| NM_001144869.1:c.466+9C>A | NP_001138341.1:n.466+9C>A | |
| XM_011545021.1:c.475C>A | XP_011543323.1:p.Arg159Ser | |
| NM_001144869.2:c.466+9C>A | NP_001138341.1:n.466+9C>A | |
| NM_001329941.1:c.475C>A | NP_001316870.1:p.Arg159Ser | |
| NM_001329942.1:c.237+238C>A | NP_001316871.1:n.237+238C>A | |
| NM_001144869.3:c.466+9C>A MANE Select | NP_001138341.1:n.466+9C>A | |
| NM_001329941.2:c.475C>A | NP_001316870.1:p.Arg159Ser | |
| NM_001329942.2:c.237+238C>A | NP_001316871.1:n.237+238C>A |