Linked Data
dbSNP Id:
rs759652706
ExAC:
19:36592974 C / G
gnomAD v2:
19-36592974-C-G
gnomAD v3:
19-36102072-C-G
gnomAD v4:
19-36102072-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102072C>G , CM000681.2:g.36102072C>G | GRCh38 |
| NC_000019.9:g.36592974C>G , CM000681.1:g.36592974C>G | GRCh37 |
| NC_000019.8:g.41284814C>G | NCBI36 |
| NG_028101.1:g.52192C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3141C>G | ENSP00000270301.6:p.Ser1047Arg | |
| ENST00000401500.7:c.3141C>G MANE Select | ENSP00000384792.1:p.Ser1047Arg | |
| ENST00000587391.6:c.*2416C>G | ENSP00000465525.1:n.*2416C>G | |
| ENST00000679357.1:c.931C>G | ||
| ENST00000679422.1:c.820C>G | ||
| ENST00000679682.1:c.3126C>G | ENSP00000506226.1:p.Ser1042Arg | |
| ENST00000679714.1:c.3135C>G | ENSP00000506627.1:p.Ser1045Arg | |
| ENST00000679757.1:c.2790C>G | ENSP00000505158.1:p.Ser930Arg | |
| ENST00000679858.1:c.*2523C>G | ENSP00000505655.1:n.*2523C>G | |
| ENST00000680211.1:c.-259C>G | ENSP00000506102.1:n.-259C>G | |
| ENST00000680349.1:n.1124C>G | ||
| ENST00000680403.1:c.3141C>G | ENSP00000505677.1:p.Ser1047Arg | |
| ENST00000680564.1:c.2972-665C>G | ENSP00000505582.1:n.2972-665C>G | |
| ENST00000680590.1:c.*1536C>G | ENSP00000505350.1:n.*1536C>G | |
| ENST00000680739.1:c.59C>G | ||
| ENST00000680773.1:n.1057C>G | ||
| ENST00000680806.1:c.*1859C>G | ENSP00000506418.1:n.*1859C>G | |
| ENST00000680997.1:n.488C>G | ||
| ENST00000681088.1:c.803C>G | ||
| ENST00000681608.1:n.89C>G | ||
| ENST00000681625.1:c.*473C>G | ENSP00000505555.1:n.*473C>G | |
| ENST00000270301.11:c.3141C>G | ENSP00000270301.6:p.Ser1047Arg | |
| ENST00000401500.6:c.3141C>G | ENSP00000384792.1:p.Ser1047Arg | |
| ENST00000587391.5:c.*2416C>G | ENSP00000465525.1:n.*2416C>G | |
| NM_001083961.1:c.3141C>G | NP_001077430.1:p.Ser1047Arg | |
| NM_173636.4:c.3141C>G | NP_775907.4:p.Ser1047Arg | |
| XM_005258809.2:c.3030C>G | XP_005258866.1:p.Ser1010Arg | |
| XM_011526837.1:c.3126C>G | XP_011525139.1:p.Ser1042Arg | |
| XM_011526838.1:c.2972-665C>G | XP_011525140.1:n.2972-665C>G | |
| XM_011526839.1:c.2790C>G | XP_011525141.1:p.Ser930Arg | |
| XM_011526840.1:c.2133C>G | XP_011525142.1:p.Ser711Arg | |
| XM_011526841.1:c.1719C>G | XP_011525143.1:p.Ser573Arg | |
| XM_011526842.1:c.1572C>G | XP_011525144.1:p.Ser524Arg | |
| XM_011526843.1:c.888C>G | XP_011525145.1:p.Ser296Arg | |
| XM_011526844.1:c.888C>G | XP_011525146.1:p.Ser296Arg | |
| XM_011526840.2:c.2133C>G | XP_011525142.1:p.Ser711Arg | |
| XM_011526841.2:c.1719C>G | XP_011525143.1:p.Ser573Arg | |
| XM_011526844.2:c.888C>G | XP_011525146.1:p.Ser296Arg | |
| XM_017026665.1:c.3141C>G | XP_016882154.1:p.Ser1047Arg | |
| NM_001083961.2:c.3141C>G MANE Select | NP_001077430.1:p.Ser1047Arg | |
| NM_173636.5:c.3141C>G | NP_775907.4:p.Ser1047Arg |