Linked Data
ClinVar Variation Id:
1463568
ClinVar RCV Id:
RCV001961114
dbSNP Id:
rs1973467126
gnomAD v3:
19-36102965-C-G
gnomAD v4:
19-36102965-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102965C>G , CM000681.2:g.36102965C>G | GRCh38 |
| NC_000019.9:g.36593867C>G , CM000681.1:g.36593867C>G | GRCh37 |
| NC_000019.8:g.41285707C>G | NCBI36 |
| NG_028101.1:g.53085C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3338C>G | ENSP00000270301.6:p.Pro1113Arg | |
| ENST00000401500.7:c.3353C>G MANE Select | ENSP00000384792.1:p.Pro1118Arg | |
| ENST00000587391.6:c.*3213C>G | ENSP00000465525.1:n.*3213C>G | |
| ENST00000679357.1:c.1433C>G | ||
| ENST00000679598.1:c.118C>G | ||
| ENST00000679682.1:c.3338C>G | ENSP00000506226.1:p.Pro1113Arg | |
| ENST00000679714.1:c.3347C>G | ENSP00000506627.1:p.Pro1116Arg | |
| ENST00000679757.1:c.3002C>G | ENSP00000505158.1:p.Pro1001Arg | |
| ENST00000679858.1:c.*2735C>G | ENSP00000505655.1:n.*2735C>G | |
| ENST00000680211.1:c.-47C>G | ENSP00000506102.1:n.-47C>G | |
| ENST00000680280.1:n.640C>G | ||
| ENST00000680349.1:n.1921C>G | ||
| ENST00000680403.1:c.3338C>G | ENSP00000505677.1:p.Pro1113Arg | |
| ENST00000680564.1:c.3104C>G | ENSP00000505582.1:p.Pro1035Arg | |
| ENST00000680590.1:c.*1733C>G | ENSP00000505350.1:n.*1733C>G | |
| ENST00000680597.1:c.118C>G | ||
| ENST00000680739.1:c.368C>G | ||
| ENST00000680773.1:n.1854C>G | ||
| ENST00000680806.1:c.*2656C>G | ENSP00000506418.1:n.*2656C>G | |
| ENST00000680997.1:n.1285C>G | ||
| ENST00000681608.1:n.982C>G | ||
| ENST00000681625.1:c.*685C>G | ENSP00000505555.1:n.*685C>G | |
| ENST00000681648.1:n.652C>G | ||
| ENST00000270301.11:c.3338C>G | ENSP00000270301.6:p.Pro1113Arg | |
| ENST00000401500.6:c.3353C>G | ENSP00000384792.1:p.Pro1118Arg | |
| ENST00000587391.5:c.*3213C>G | ENSP00000465525.1:n.*3213C>G | |
| NM_001083961.1:c.3353C>G | NP_001077430.1:p.Pro1118Arg | |
| NM_173636.4:c.3338C>G | NP_775907.4:p.Pro1113Arg | |
| XM_005258809.2:c.3242C>G | XP_005258866.1:p.Pro1081Arg | |
| XM_011526837.1:c.3338C>G | XP_011525139.1:p.Pro1113Arg | |
| XM_011526838.1:c.3104C>G | XP_011525140.1:p.Pro1035Arg | |
| XM_011526839.1:c.3002C>G | XP_011525141.1:p.Pro1001Arg | |
| XM_011526840.1:c.2345C>G | XP_011525142.1:p.Pro782Arg | |
| XM_011526841.1:c.1931C>G | XP_011525143.1:p.Pro644Arg | |
| XM_011526842.1:c.1784C>G | XP_011525144.1:p.Pro595Arg | |
| XM_011526843.1:c.1100C>G | XP_011525145.1:p.Pro367Arg | |
| XM_011526844.1:c.1100C>G | XP_011525146.1:p.Pro367Arg | |
| XM_011526840.2:c.2345C>G | XP_011525142.1:p.Pro782Arg | |
| XM_011526841.2:c.1931C>G | XP_011525143.1:p.Pro644Arg | |
| XM_011526844.2:c.1100C>G | XP_011525146.1:p.Pro367Arg | |
| XM_017026665.1:c.3353C>G | XP_016882154.1:p.Pro1118Arg | |
| NM_001083961.2:c.3353C>G MANE Select | NP_001077430.1:p.Pro1118Arg | |
| NM_173636.5:c.3338C>G | NP_775907.4:p.Pro1113Arg |