Linked Data
dbSNP Id:
rs760586057
ExAC:
17:4622647 G / C
gnomAD v2:
17-4622647-G-C
gnomAD v3:
17-4719352-G-C
gnomAD v4:
17-4719352-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4719352G>C , CM000679.2:g.4719352G>C | GRCh38 |
| NC_000017.10:g.4622647G>C , CM000679.1:g.4622647G>C | GRCh37 |
| NC_000017.9:g.4569396G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269260.7:c.849G>C MANE Select | ENSP00000269260.2:p.Arg283= | |
| ENST00000269260.6:c.849G>C | ENSP00000269260.2:p.Arg283= | |
| ENST00000346341.6:c.804G>C | ENSP00000341895.2:p.Arg268= | |
| ENST00000381488.10:c.804G>C | ENSP00000370898.6:p.Arg268= | |
| ENST00000412477.7:c.912G>C | ENSP00000403701.3:p.Arg304= | |
| ENST00000571206.1:c.273G>C | ENSP00000460607.1:p.Arg91= | |
| ENST00000571428.5:c.273G>C | ENSP00000465877.1:p.Arg91= | |
| ENST00000572457.5:c.273G>C | ENSP00000465296.1:p.Arg91= | |
| ENST00000574502.5:c.*327G>C | ENSP00000458371.1:n.*327G>C | |
| ENST00000574954.5:c.273G>C | ENSP00000466344.1:p.Arg91= | |
| ENST00000575877.5:c.786+63G>C | ENSP00000466857.1:n.786+63G>C | |
| ENST00000576235.1:c.731G>C | ENSP00000460879.1:n.731G>C | |
| NM_001257328.1:c.912G>C | NP_001244257.1:p.Arg304= | |
| NM_001257329.1:c.786+63G>C | NP_001244258.1:n.786+63G>C | |
| NM_001257330.1:c.849G>C | NP_001244259.1:p.Arg283= | |
| NM_001257331.1:c.804G>C | NP_001244260.1:p.Arg268= | |
| NM_004313.3:c.849G>C | NP_004304.1:p.Arg283= | |
| NM_199004.1:c.804G>C | NP_945355.1:p.Arg268= | |
| NR_047516.1:n.1046G>C | ||
| XM_006721520.1:c.273G>C | XP_006721583.1:p.Arg91= | |
| XM_006721521.1:c.273G>C | XP_006721584.1:p.Arg91= | |
| XM_011523858.1:c.942G>C | XP_011522160.1:p.Arg314= | |
| XM_011523859.1:c.897G>C | XP_011522161.1:p.Arg299= | |
| NM_001330064.1:c.273G>C | NP_001316993.1:p.Arg91= | |
| XM_011523858.2:c.942G>C | XP_011522160.1:p.Arg314= | |
| XM_017024645.1:c.273G>C | XP_016880134.1:p.Arg91= | |
| XM_024450751.1:c.849G>C | XP_024306519.1:p.Arg283= | |
| XM_024450752.1:c.273G>C | XP_024306520.1:p.Arg91= | |
| XM_024450753.1:c.273G>C | XP_024306521.1:p.Arg91= | |
| XR_002958006.1:n.856G>C | ||
| XR_002958007.1:n.856G>C | ||
| NM_004313.4:c.849G>C MANE Select | NP_004304.1:p.Arg283= | |
| NM_001257328.2:c.912G>C | NP_001244257.1:p.Arg304= | |
| NM_001257329.2:c.786+63G>C | NP_001244258.1:n.786+63G>C | |
| NM_001257330.2:c.849G>C | NP_001244259.1:p.Arg283= | |
| NM_001257331.2:c.804G>C | NP_001244260.1:p.Arg268= | |
| NM_001330064.2:c.273G>C | NP_001316993.1:p.Arg91= | |
| NM_199004.2:c.804G>C | NP_945355.1:p.Arg268= | |
| NR_047516.2:n.908G>C |