Linked Data
ClinVar Variation Id:
1937514
ClinVar RCV Id:
RCV002627686
dbSNP Id:
rs1969768651
gnomAD v3:
19-35732941-C-G
gnomAD v4:
19-35732941-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732941C>G , CM000681.2:g.35732941C>G | GRCh38 |
| NC_000019.9:g.36223842C>G , CM000681.1:g.36223842C>G | GRCh37 |
| NC_000019.8:g.40915682C>G | NCBI36 |
| NG_052906.1:g.19923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.698C>G | ||
| ENST00000673918.2:c.6326C>G | ENSP00000501283.1:p.Pro2109Arg | |
| ENST00000674114.2:c.3933C>G | ENSP00000501039.2:n.3933C>G | |
| ENST00000684977.1:c.1610C>G | ENSP00000509384.1:p.Pro537Arg | |
| ENST00000689544.1:n.1545C>G | ||
| ENST00000691421.1:c.1613C>G | ENSP00000508674.1:p.Pro538Arg | |
| ENST00000691855.1:c.5934C>G | ||
| ENST00000692961.1:c.6392C>G | ENSP00000509289.1:p.Pro2131Arg | |
| ENST00000693677.1:c.704+612C>G | ENSP00000509779.1:n.704+612C>G | |
| ENST00000420124.4:c.6392C>G MANE Select | ENSP00000398837.2:p.Pro2131Arg | |
| ENST00000673918.1:c.6326C>G | ENSP00000501283.1:p.Pro2109Arg | |
| ENST00000674114.1:c.3714C>G | ||
| ENST00000420124.2:c.6392C>G | ENSP00000398837.1:p.Pro2131Arg | |
| NM_014727.2:c.6392C>G | NP_055542.1:p.Pro2131Arg | |
| XM_011527561.1:c.6326C>G | XP_011525863.1:p.Pro2109Arg | |
| XM_011527562.1:c.6392C>G | XP_011525864.1:p.Pro2131Arg | |
| XM_011527563.1:c.6116C>G | XP_011525865.1:p.Pro2039Arg | |
| XM_011527561.2:c.5828C>G | XP_011525863.2:p.Pro1943Arg | |
| XM_011527562.2:c.6392C>G | XP_011525864.1:p.Pro2131Arg | |
| XM_017027544.1:c.6392C>G | XP_016883033.1:p.Pro2131Arg | |
| XM_017027545.1:c.5828C>G | XP_016883034.1:p.Pro1943Arg | |
| XM_017027546.1:c.3356C>G | XP_016883035.1:p.Pro1119Arg | |
| NM_014727.3:c.6392C>G MANE Select | NP_055542.1:p.Pro2131Arg |