Linked Data
dbSNP Id:
rs10485057
gnomAD v2:
6-154413255-A-G
gnomAD v3:
6-154092120-A-G
gnomAD v4:
6-154092120-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154092120A>G , CM000668.2:g.154092120A>G | GRCh38 |
| NC_000006.11:g.154413255A>G , CM000668.1:g.154413255A>G | GRCh37 |
| NC_000006.10:g.154454948A>G | NCBI36 |
| NG_021208.1:g.86620A>G | |
| NG_021208.2:g.86620A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.1164+648A>G MANE Select | ENSP00000328264.7:n.1164+648A>G | |
| ENST00000229768.9:c.1164+648A>G | ENSP00000229768.5:n.1164+648A>G | |
| ENST00000330432.11:c.1164+648A>G | ENSP00000328264.7:n.1164+648A>G | |
| ENST00000337049.8:c.1164+648A>G | ENSP00000338381.4:n.1164+648A>G | |
| ENST00000414028.6:c.1164+648A>G | ENSP00000399359.2:n.1164+648A>G | |
| ENST00000419506.6:c.1164+648A>G | ENSP00000403549.2:n.1164+648A>G | |
| ENST00000434900.6:c.1443+648A>G | ENSP00000394624.2:n.1443+648A>G | |
| ENST00000435918.6:c.1164+648A>G | ENSP00000413752.2:n.1164+648A>G | |
| ENST00000452687.6:c.1164+648A>G | ENSP00000410497.2:n.1164+648A>G | |
| ENST00000518759.5:c.921+648A>G | ENSP00000430260.1:n.921+648A>G | |
| ENST00000519083.5:c.1164+648A>G | ENSP00000431048.1:n.1164+648A>G | |
| ENST00000519613.5:n.1096+648A>G | ||
| ENST00000520708.5:c.864+648A>G | ENSP00000430876.1:n.864+648A>G | |
| ENST00000522236.1:c.864+648A>G | ENSP00000429373.1:n.864+648A>G | |
| ENST00000522555.5:c.864+648A>G | ENSP00000429719.1:n.864+648A>G | |
| ENST00000522739.5:c.1164+648A>G | ENSP00000428018.1:n.1164+648A>G | |
| ENST00000524150.2:c.*250+648A>G | ENSP00000430575.1:n.*250+648A>G | |
| ENST00000524163.5:c.1164+648A>G | ENSP00000430097.1:n.1164+648A>G | |
| NM_000914.4:c.1164+648A>G | NP_000905.3:n.1164+648A>G | |
| NM_001008503.2:c.1164+648A>G | NP_001008503.2:n.1164+648A>G | |
| NM_001008505.2:c.1164+648A>G | NP_001008505.2:n.1164+648A>G | |
| NM_001145279.3:c.1443+648A>G | NP_001138751.1:n.1443+648A>G | |
| NM_001145280.3:c.864+648A>G | NP_001138752.1:n.864+648A>G | |
| NM_001145281.2:c.921+648A>G | NP_001138753.1:n.921+648A>G | |
| NM_001145282.2:c.1164+648A>G | NP_001138754.1:n.1164+648A>G | |
| NM_001145283.2:c.1164+648A>G | NP_001138755.1:n.1164+648A>G | |
| NM_001145284.3:c.1164+648A>G | NP_001138756.1:n.1164+648A>G | |
| NM_001145285.2:c.1164+648A>G | NP_001138757.1:n.1164+648A>G | |
| NM_001145286.2:c.1164+648A>G | NP_001138758.1:n.1164+648A>G | |
| NM_001145287.2:c.864+648A>G | NP_001138759.1:n.864+648A>G | |
| NM_001285522.1:c.291-26563A>G | NP_001272451.1:n.291-26563A>G | |
| NM_001285524.1:c.1443+648A>G | NP_001272453.1:n.1443+648A>G | |
| NM_001285526.1:c.864+648A>G | NP_001272455.1:n.864+648A>G | |
| NR_104348.1:n.1298+648A>G | ||
| NR_104349.1:n.1298+648A>G | ||
| NR_104350.1:n.945+648A>G | ||
| NR_104351.1:n.1298+648A>G | ||
| XM_011535849.1:c.1443+648A>G | XP_011534151.1:n.1443+648A>G | |
| XM_011535850.1:c.957+648A>G | XP_011534152.1:n.957+648A>G | |
| XM_011535851.1:c.864+648A>G | XP_011534153.1:n.864+648A>G | |
| XM_011535852.1:c.864+648A>G | XP_011534154.1:n.864+648A>G | |
| XM_011535853.1:c.864+648A>G | XP_011534155.1:n.864+648A>G | |
| XM_011535854.1:c.864+648A>G | XP_011534156.1:n.864+648A>G | |
| XM_011535855.1:c.864+648A>G | XP_011534157.1:n.864+648A>G | |
| XM_011535856.1:c.864+648A>G | XP_011534158.1:n.864+648A>G | |
| XM_011535857.1:c.864+648A>G | XP_011534159.1:n.864+648A>G | |
| XM_011535858.1:c.864+648A>G | XP_011534160.1:n.864+648A>G | |
| XM_011535859.1:c.864+648A>G | XP_011534161.1:n.864+648A>G | |
| XM_011535860.1:c.864+648A>G | XP_011534162.1:n.864+648A>G | |
| XM_011535861.1:c.864+648A>G | XP_011534163.1:n.864+648A>G | |
| XM_011535862.1:c.864+648A>G | XP_011534164.1:n.864+648A>G | |
| XM_011535851.3:c.864+648A>G | XP_011534153.1:n.864+648A>G | |
| XM_011535853.2:c.864+648A>G | XP_011534155.1:n.864+648A>G | |
| XM_011535856.2:c.864+648A>G | XP_011534158.1:n.864+648A>G | |
| XM_011535862.2:c.864+648A>G | XP_011534164.1:n.864+648A>G | |
| XM_017010903.2:c.864+648A>G | XP_016866392.1:n.864+648A>G | |
| XM_017010904.1:c.864+648A>G | XP_016866393.1:n.864+648A>G | |
| XM_017010905.1:c.864+648A>G | XP_016866394.1:n.864+648A>G | |
| XM_017010906.2:c.864+648A>G | XP_016866395.1:n.864+648A>G | |
| NM_000914.5:c.1164+648A>G MANE Select | NP_000905.3:n.1164+648A>G | |
| NM_001008503.3:c.1164+648A>G | NP_001008503.2:n.1164+648A>G | |
| NM_001145279.4:c.1443+648A>G | NP_001138751.1:n.1443+648A>G | |
| NM_001145280.4:c.864+648A>G | NP_001138752.1:n.864+648A>G | |
| NM_001145281.3:c.921+648A>G | NP_001138753.1:n.921+648A>G | |
| NM_001145285.3:c.1164+648A>G | NP_001138757.1:n.1164+648A>G | |
| NM_001145286.3:c.1164+648A>G | NP_001138758.1:n.1164+648A>G | |
| NM_001145287.3:c.864+648A>G | NP_001138759.1:n.864+648A>G | |
| NM_001285526.2:c.864+648A>G | NP_001272455.1:n.864+648A>G |