Linked Data
ClinVar Variation Id:
349391
dbSNP Id:
rs199521106
ExAC:
4:660344 G / C
gnomAD v2:
4-660344-G-C
gnomAD v3:
4-666555-G-C
gnomAD v4:
4-666555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.666555G>C , CM000666.2:g.666555G>C | GRCh38 |
| NC_000004.11:g.660344G>C , CM000666.1:g.660344G>C | GRCh37 |
| NC_000004.10:g.650344G>C | NCBI36 |
| NG_009839.1:g.45982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.2293G>C MANE Select | ENSP00000420295.1:p.Ala765Pro | |
| ENST00000255622.10:c.2293G>C | ENSP00000255622.6:p.Ala765Pro | |
| ENST00000429163.6:c.1456G>C | ENSP00000406334.2:p.Ala486Pro | |
| ENST00000461490.1:c.135G>C | ||
| ENST00000471824.6:c.373G>C | ENSP00000417852.2:p.Ala125Pro | |
| ENST00000496514.5:c.2293G>C | ENSP00000420295.1:p.Ala765Pro | |
| NM_000283.3:c.2293G>C | NP_000274.2:p.Ala765Pro | |
| NM_001145291.1:c.2293G>C | NP_001138763.1:p.Ala765Pro | |
| NM_001145292.1:c.1456G>C | NP_001138764.1:p.Ala486Pro | |
| XM_011513473.1:c.2512G>C | XP_011511775.1:p.Ala838Pro | |
| XM_011513474.1:c.2512G>C | XP_011511776.1:p.Ala838Pro | |
| XM_011513475.1:c.2293G>C | XP_011511777.1:p.Ala765Pro | |
| XM_011513476.1:c.2512G>C | XP_011511778.1:p.Ala838Pro | |
| XM_011513477.1:c.1498G>C | XP_011511779.1:p.Ala500Pro | |
| XM_011513478.1:c.1222G>C | XP_011511780.1:p.Ala408Pro | |
| NM_001350154.1:c.1456G>C | NP_001337083.1:p.Ala486Pro | |
| NM_001350155.1:c.1138G>C | NP_001337084.1:p.Ala380Pro | |
| XM_011513473.3:c.2512G>C | XP_011511775.1:p.Ala838Pro | |
| XM_011513474.3:c.2512G>C | XP_011511776.1:p.Ala838Pro | |
| XM_011513475.2:c.2293G>C | XP_011511777.1:p.Ala765Pro | |
| XM_011513476.3:c.2512G>C | XP_011511778.1:p.Ala838Pro | |
| XM_011513478.2:c.1222G>C | XP_011511780.1:p.Ala408Pro | |
| XM_017008284.1:c.1456G>C | XP_016863773.1:p.Ala486Pro | |
| XM_017008285.1:c.1456G>C | XP_016863774.1:p.Ala486Pro | |
| XM_017008286.1:c.1456G>C | XP_016863775.1:p.Ala486Pro | |
| NM_001350154.2:c.1456G>C | NP_001337083.1:p.Ala486Pro | |
| NM_001350155.2:c.1138G>C | NP_001337084.1:p.Ala380Pro | |
| NM_000283.4:c.2293G>C MANE Select | NP_000274.3:p.Ala765Pro | |
| NM_001145291.2:c.2293G>C | NP_001138763.2:p.Ala765Pro | |
| NM_001145292.2:c.1456G>C | NP_001138764.2:p.Ala486Pro | |
| NM_001350154.3:c.1456G>C | NP_001337083.1:p.Ala486Pro | |
| NM_001350155.3:c.1138G>C | NP_001337084.1:p.Ala380Pro | |
| NM_001379246.1:c.1456G>C | NP_001366175.1:p.Ala486Pro | |
| NM_001379247.1:c.1456G>C | NP_001366176.1:p.Ala486Pro |