Linked Data
ClinVar Variation Id:
1335261
ClinVar RCV Id:
RCV001816195
dbSNP Id:
rs988555614
gnomAD v3:
17-17793696-C-G
gnomAD v4:
17-17793696-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793696C>G , CM000679.2:g.17793696C>G | GRCh38 |
| NC_000017.10:g.17697010C>G , CM000679.1:g.17697010C>G | GRCh37 |
| NC_000017.9:g.17637735C>G | NCBI36 |
| NG_007101.2:g.117224C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.748C>G MANE Select | ENSP00000323074.4:p.Pro250Ala | |
| ENST00000640861.1:c.682C>G | ENSP00000491773.1:p.Pro228Ala | |
| ENST00000353383.5:c.748C>G | ENSP00000323074.4:p.Pro250Ala | |
| ENST00000395774.1:c.748C>G | ENSP00000379120.1:p.Pro250Ala | |
| NM_030665.3:c.748C>G | NP_109590.3:p.Pro250Ala | |
| XM_017024025.1:c.748C>G | XP_016879514.1:p.Pro250Ala | |
| XM_017024026.1:c.748C>G | XP_016879515.1:p.Pro250Ala | |
| XM_017024027.1:c.748C>G | XP_016879516.1:p.Pro250Ala | |
| XM_017024028.2:c.748C>G | XP_016879517.1:p.Pro250Ala | |
| NM_030665.4:c.748C>G MANE Select | NP_109590.3:p.Pro250Ala |