Linked Data
ClinVar Variation Id:
3204428
ClinVar RCV Id:
RCV004499315
dbSNP Id:
rs200251590
ExAC:
6:154411190 C / G
gnomAD v2:
6-154411190-C-G
gnomAD v3:
6-154090055-C-G
gnomAD v4:
6-154090055-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154090055C>G , CM000668.2:g.154090055C>G | GRCh38 |
| NC_000006.11:g.154411190C>G , CM000668.1:g.154411190C>G | GRCh37 |
| NC_000006.10:g.154452883C>G | NCBI36 |
| NG_021208.1:g.84555C>G | |
| NG_021208.2:g.84555C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330432.12:c.520C>G MANE Select | ENSP00000328264.7:p.Pro174Ala | |
| ENST00000229768.9:c.520C>G | ENSP00000229768.5:p.Pro174Ala | |
| ENST00000330432.11:c.520C>G | ENSP00000328264.7:p.Pro174Ala | |
| ENST00000337049.8:c.520C>G | ENSP00000338381.4:p.Pro174Ala | |
| ENST00000360422.8:c.706C>G | ENSP00000353598.5:p.Pro236Ala | |
| ENST00000414028.6:c.520C>G | ENSP00000399359.2:p.Pro174Ala | |
| ENST00000419506.6:c.520C>G | ENSP00000403549.2:p.Pro174Ala | |
| ENST00000428397.6:c.520C>G | ENSP00000411903.2:p.Pro174Ala | |
| ENST00000434900.6:c.799C>G | ENSP00000394624.2:p.Pro267Ala | |
| ENST00000435918.6:c.520C>G | ENSP00000413752.2:p.Pro174Ala | |
| ENST00000452687.6:c.520C>G | ENSP00000410497.2:p.Pro174Ala | |
| ENST00000518759.5:c.277C>G | ENSP00000430260.1:p.Pro93Ala | |
| ENST00000519083.5:c.520C>G | ENSP00000431048.1:p.Pro174Ala | |
| ENST00000519613.5:n.452C>G | ||
| ENST00000520708.5:c.220C>G | ENSP00000430876.1:p.Pro74Ala | |
| ENST00000521106.1:n.230C>G | ||
| ENST00000522236.1:c.220C>G | ENSP00000429373.1:p.Pro74Ala | |
| ENST00000522382.1:n.294C>G | ||
| ENST00000522555.5:c.220C>G | ENSP00000429719.1:p.Pro74Ala | |
| ENST00000522739.5:c.520C>G | ENSP00000428018.1:p.Pro174Ala | |
| ENST00000524150.2:c.291-897C>G | ENSP00000430575.1:n.291-897C>G | |
| ENST00000524163.5:c.520C>G | ENSP00000430097.1:p.Pro174Ala | |
| NM_000914.4:c.520C>G | NP_000905.3:p.Pro174Ala | |
| NM_001008503.2:c.520C>G | NP_001008503.2:p.Pro174Ala | |
| NM_001008504.3:c.520C>G | NP_001008504.2:p.Pro174Ala | |
| NM_001008505.2:c.520C>G | NP_001008505.2:p.Pro174Ala | |
| NM_001145279.3:c.799C>G | NP_001138751.1:p.Pro267Ala | |
| NM_001145280.3:c.220C>G | NP_001138752.1:p.Pro74Ala | |
| NM_001145281.2:c.277C>G | NP_001138753.1:p.Pro93Ala | |
| NM_001145282.2:c.520C>G | NP_001138754.1:p.Pro174Ala | |
| NM_001145283.2:c.520C>G | NP_001138755.1:p.Pro174Ala | |
| NM_001145284.3:c.520C>G | NP_001138756.1:p.Pro174Ala | |
| NM_001145285.2:c.520C>G | NP_001138757.1:p.Pro174Ala | |
| NM_001145286.2:c.520C>G | NP_001138758.1:p.Pro174Ala | |
| NM_001145287.2:c.220C>G | NP_001138759.1:p.Pro74Ala | |
| NM_001285522.1:c.291-28628C>G | NP_001272451.1:n.291-28628C>G | |
| NM_001285523.1:c.520C>G | NP_001272452.1:p.Pro174Ala | |
| NM_001285524.1:c.799C>G | NP_001272453.1:p.Pro267Ala | |
| NM_001285526.1:c.220C>G | NP_001272455.1:p.Pro74Ala | |
| NM_001285527.1:c.220C>G | NP_001272456.1:p.Pro74Ala | |
| NM_001285528.1:c.220C>G | NP_001272457.1:p.Pro74Ala | |
| NR_104348.1:n.654C>G | ||
| NR_104349.1:n.654C>G | ||
| NR_104350.1:n.425-897C>G | ||
| NR_104351.1:n.654C>G | ||
| XM_011535849.1:c.799C>G | XP_011534151.1:p.Pro267Ala | |
| XM_011535850.1:c.313C>G | XP_011534152.1:p.Pro105Ala | |
| XM_011535851.1:c.220C>G | XP_011534153.1:p.Pro74Ala | |
| XM_011535852.1:c.220C>G | XP_011534154.1:p.Pro74Ala | |
| XM_011535853.1:c.220C>G | XP_011534155.1:p.Pro74Ala | |
| XM_011535854.1:c.220C>G | XP_011534156.1:p.Pro74Ala | |
| XM_011535855.1:c.220C>G | XP_011534157.1:p.Pro74Ala | |
| XM_011535856.1:c.220C>G | XP_011534158.1:p.Pro74Ala | |
| XM_011535857.1:c.220C>G | XP_011534159.1:p.Pro74Ala | |
| XM_011535858.1:c.220C>G | XP_011534160.1:p.Pro74Ala | |
| XM_011535859.1:c.220C>G | XP_011534161.1:p.Pro74Ala | |
| XM_011535860.1:c.220C>G | XP_011534162.1:p.Pro74Ala | |
| XM_011535861.1:c.220C>G | XP_011534163.1:p.Pro74Ala | |
| XM_011535862.1:c.220C>G | XP_011534164.1:p.Pro74Ala | |
| NM_001285523.2:c.520C>G | NP_001272452.1:p.Pro174Ala | |
| NM_001285528.2:c.220C>G | NP_001272457.1:p.Pro74Ala | |
| XM_011535851.3:c.220C>G | XP_011534153.1:p.Pro74Ala | |
| XM_011535853.2:c.220C>G | XP_011534155.1:p.Pro74Ala | |
| XM_011535856.2:c.220C>G | XP_011534158.1:p.Pro74Ala | |
| XM_011535862.2:c.220C>G | XP_011534164.1:p.Pro74Ala | |
| XM_017010903.2:c.220C>G | XP_016866392.1:p.Pro74Ala | |
| XM_017010904.1:c.220C>G | XP_016866393.1:p.Pro74Ala | |
| XM_017010905.1:c.220C>G | XP_016866394.1:p.Pro74Ala | |
| XM_017010906.2:c.220C>G | XP_016866395.1:p.Pro74Ala | |
| NM_000914.5:c.520C>G MANE Select | NP_000905.3:p.Pro174Ala | |
| NM_001008503.3:c.520C>G | NP_001008503.2:p.Pro174Ala | |
| NM_001008504.4:c.520C>G | NP_001008504.2:p.Pro174Ala | |
| NM_001145279.4:c.799C>G | NP_001138751.1:p.Pro267Ala | |
| NM_001145280.4:c.220C>G | NP_001138752.1:p.Pro74Ala | |
| NM_001145281.3:c.277C>G | NP_001138753.1:p.Pro93Ala | |
| NM_001145285.3:c.520C>G | NP_001138757.1:p.Pro174Ala | |
| NM_001145286.3:c.520C>G | NP_001138758.1:p.Pro174Ala | |
| NM_001145287.3:c.220C>G | NP_001138759.1:p.Pro74Ala | |
| NM_001285523.3:c.520C>G | NP_001272452.1:p.Pro174Ala | |
| NM_001285526.2:c.220C>G | NP_001272455.1:p.Pro74Ala |