Linked Data
dbSNP Id:
rs228697
ExAC:
1:7887579 C / G
gnomAD v2:
1-7887579-C-G
gnomAD v3:
1-7827519-C-G
gnomAD v4:
1-7827519-C-G
MyVariant Identifiers:
chr1:g.7887579C>G (hg19)
chr1:g.7887579_7887581delinsGCT (hg19)
chr1:g.7827519C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7827519C>G , CM000663.2:g.7827519C>G | GRCh38 |
| NC_000001.10:g.7887579C>G , CM000663.1:g.7887579C>G | GRCh37 |
| NC_000001.9:g.7810166C>G | NCBI36 |
| NG_046850.1:g.48140C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377532.8:c.2590C>G MANE Select | ENSP00000366755.3:p.Pro864Ala | |
| ENST00000361923.2:c.2566C>G | ENSP00000355031.2:p.Pro856Ala | |
| ENST00000377532.7:c.2590C>G | ENSP00000366755.3:p.Pro864Ala | |
| ENST00000613533.4:c.2590C>G | ENSP00000482093.1:p.Pro864Ala | |
| ENST00000614998.4:c.2590C>G | ENSP00000479223.1:p.Pro864Ala | |
| NM_001289861.1:c.2590C>G | NP_001276790.1:p.Pro864Ala | |
| NM_001289862.1:c.2590C>G | NP_001276791.1:p.Pro864Ala | |
| NM_001289863.1:c.2569C>G | NP_001276792.1:p.Pro857Ala | |
| NM_001289864.1:c.1633C>G | NP_001276793.1:p.Pro545Ala | |
| NM_016831.2:c.2566C>G | NP_058515.1:p.Pro856Ala | |
| XM_005263521.2:c.2590C>G | XP_005263578.1:p.Pro864Ala | |
| XM_005263522.2:c.2587C>G | XP_005263579.1:p.Pro863Ala | |
| XM_005263523.2:c.2569C>G | XP_005263580.1:p.Pro857Ala | |
| XM_005263524.2:c.2590C>G | XP_005263581.1:p.Pro864Ala | |
| XM_005263529.2:c.2065C>G | XP_005263586.1:p.Pro689Ala | |
| XM_011542384.1:c.2590C>G | XP_011540686.1:p.Pro864Ala | |
| XM_011542385.1:c.2590C>G | XP_011540687.1:p.Pro864Ala | |
| XM_011542386.1:c.2569C>G | XP_011540688.1:p.Pro857Ala | |
| XM_011542387.1:c.2422C>G | XP_011540689.1:p.Pro808Ala | |
| XM_011542388.1:c.2242C>G | XP_011540690.1:p.Pro748Ala | |
| XM_011542389.1:c.2227C>G | XP_011540691.1:p.Pro743Ala | |
| XM_011542390.1:c.2569C>G | XP_011540692.1:p.Pro857Ala | |
| XM_005263524.4:c.2590C>G | XP_005263581.1:p.Pro864Ala | |
| XM_017002723.2:c.2587C>G | XP_016858212.1:p.Pro863Ala | |
| XM_017002724.2:c.2587C>G | XP_016858213.1:p.Pro863Ala | |
| XM_017002726.2:c.2566C>G | XP_016858215.1:p.Pro856Ala | |
| XM_017002727.1:c.2422C>G | XP_016858216.1:p.Pro808Ala | |
| XM_017002728.1:c.2242C>G | XP_016858217.1:p.Pro748Ala | |
| XM_017002729.1:c.2227C>G | XP_016858218.1:p.Pro743Ala | |
| XM_017002730.2:c.2242C>G | XP_016858219.1:p.Pro748Ala | |
| XM_017002731.2:c.2221C>G | XP_016858220.1:p.Pro741Ala | |
| XM_017002732.1:c.2221C>G | XP_016858221.1:p.Pro741Ala | |
| XM_017002733.2:c.2065C>G | XP_016858222.1:p.Pro689Ala | |
| XM_017002734.1:c.2065C>G | XP_016858223.1:p.Pro689Ala | |
| XM_017002735.2:c.2065C>G | XP_016858224.1:p.Pro689Ala | |
| XM_017002737.1:c.1198C>G | XP_016858226.1:p.Pro400Ala | |
| XM_017002738.2:c.1198C>G | XP_016858227.1:p.Pro400Ala | |
| XM_024450585.1:c.2590C>G | XP_024306353.1:p.Pro864Ala | |
| XM_024450586.1:c.2590C>G | XP_024306354.1:p.Pro864Ala | |
| XM_024450587.1:c.2569C>G | XP_024306355.1:p.Pro857Ala | |
| XM_024450588.1:c.2569C>G | XP_024306356.1:p.Pro857Ala | |
| XM_024450590.1:c.2566C>G | XP_024306358.1:p.Pro856Ala | |
| XM_024450611.1:c.2044C>G | XP_024306379.1:p.Pro682Ala | |
| XM_024450612.1:c.2044C>G | XP_024306380.1:p.Pro682Ala | |
| NM_001289861.2:c.2590C>G | NP_001276790.1:p.Pro864Ala | |
| NM_001289862.2:c.2590C>G | NP_001276791.1:p.Pro864Ala | |
| NM_001289863.3:c.2569C>G | NP_001276792.1:p.Pro857Ala | |
| NM_001289864.3:c.1633C>G | NP_001276793.1:p.Pro545Ala | |
| NM_001377275.1:c.2590C>G MANE Select | NP_001364204.1:p.Pro864Ala | |
| NM_001377276.1:c.2569C>G | NP_001364205.1:p.Pro857Ala | |
| NM_016831.4:c.2566C>G | NP_058515.1:p.Pro856Ala |