Linked Data
dbSNP Id:
rs1407482665
gnomAD v2:
7-122047969-G-A
gnomAD v3:
7-122407915-G-A
gnomAD v4:
7-122407915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.122407915G>A , CM000669.2:g.122407915G>A | GRCh38 |
| NC_000007.13:g.122047969G>A , CM000669.1:g.122047969G>A | GRCh37 |
| NC_000007.12:g.121835205G>A | NCBI36 |
| NG_016215.1:g.483845C>T | |
| NG_016215.2:g.483845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449022.7:c.2590-219C>T MANE Select | ENSP00000398481.2:n.2590-219C>T | |
| ENST00000313070.11:c.2284-219C>T | ENSP00000325581.8:n.2284-219C>T | |
| ENST00000334010.11:c.2584-219C>T | ENSP00000333940.7:n.2584-219C>T | |
| ENST00000397721.4:c.1517-219C>T | ||
| ENST00000412584.6:c.2572-219C>T | ENSP00000400401.2:n.2572-219C>T | |
| ENST00000449022.6:c.2590-219C>T | ENSP00000398481.2:n.2590-219C>T | |
| ENST00000462699.5:c.171-219C>T | ||
| ENST00000615869.4:c.2605-219C>T | ENSP00000484355.1:n.2605-219C>T | |
| NM_001009571.3:c.2572-219C>T | NP_001009571.2:n.2572-219C>T | |
| NM_001167940.1:c.2602-219C>T | NP_001161412.1:n.2602-219C>T | |
| NM_017954.10:c.2590-219C>T | NP_060424.9:n.2590-219C>T | |
| XM_005250695.3:c.2611-219C>T | XP_005250752.1:n.2611-219C>T | |
| XM_005250696.3:c.2602-219C>T | XP_005250753.1:n.2602-219C>T | |
| XM_005250697.3:c.2602-219C>T | XP_005250754.1:n.2602-219C>T | |
| XM_005250698.3:c.2611-219C>T | XP_005250755.1:n.2611-219C>T | |
| XM_005250699.3:c.2590-219C>T | XP_005250756.1:n.2590-219C>T | |
| XM_005250700.3:c.2602-219C>T | XP_005250757.1:n.2602-219C>T | |
| XM_005250701.3:c.2581-219C>T | XP_005250758.1:n.2581-219C>T | |
| XM_005250702.3:c.2581-219C>T | XP_005250759.1:n.2581-219C>T | |
| XM_005250703.3:c.2611-219C>T | XP_005250760.1:n.2611-219C>T | |
| XM_005250704.3:c.2602-219C>T | XP_005250761.1:n.2602-219C>T | |
| XM_005250705.3:c.2602-219C>T | XP_005250762.1:n.2602-219C>T | |
| XM_005250706.3:c.2602-219C>T | XP_005250763.1:n.2602-219C>T | |
| XM_005250707.3:c.2581-219C>T | XP_005250764.1:n.2581-219C>T | |
| XM_005250708.2:c.2572-219C>T | XP_005250765.1:n.2572-219C>T | |
| XM_011516695.1:c.2611-219C>T | XP_011514997.1:n.2611-219C>T | |
| XM_011516696.1:c.2590-219C>T | XP_011514998.1:n.2590-219C>T | |
| XM_011516697.1:c.2581-219C>T | XP_011514999.1:n.2581-219C>T | |
| NM_001363389.1:c.2611-219C>T | NP_001350318.1:n.2611-219C>T | |
| NM_001363390.1:c.2611-219C>T | NP_001350319.1:n.2611-219C>T | |
| NM_001363391.1:c.2602-219C>T | NP_001350320.1:n.2602-219C>T | |
| NM_001363392.1:c.2611-219C>T | NP_001350321.1:n.2611-219C>T | |
| NM_001363393.1:c.2611-219C>T | NP_001350322.1:n.2611-219C>T | |
| NM_001363394.1:c.2602-219C>T | NP_001350323.1:n.2602-219C>T | |
| NM_001363395.1:c.2593-219C>T | NP_001350324.1:n.2593-219C>T | |
| NM_001363396.1:c.2590-219C>T | NP_001350325.1:n.2590-219C>T | |
| NM_001363397.1:c.2581-219C>T | NP_001350326.1:n.2581-219C>T | |
| NM_001363398.1:c.2572-219C>T | NP_001350327.1:n.2572-219C>T | |
| NM_001363399.1:c.2128-219C>T | NP_001350328.1:n.2128-219C>T | |
| NM_001363400.1:c.2128-219C>T | NP_001350329.1:n.2128-219C>T | |
| XM_005250696.5:c.2602-219C>T | XP_005250753.1:n.2602-219C>T | |
| XM_005250697.5:c.2602-219C>T | XP_005250754.1:n.2602-219C>T | |
| XM_005250699.5:c.2590-219C>T | XP_005250756.1:n.2590-219C>T | |
| XM_005250701.5:c.2581-219C>T | XP_005250758.1:n.2581-219C>T | |
| XM_005250702.5:c.2581-219C>T | XP_005250759.1:n.2581-219C>T | |
| XM_005250704.5:c.2602-219C>T | XP_005250761.1:n.2602-219C>T | |
| XM_005250706.5:c.2602-219C>T | XP_005250763.1:n.2602-219C>T | |
| XM_005250707.5:c.2581-219C>T | XP_005250764.1:n.2581-219C>T | |
| XM_017012794.2:c.2572-219C>T | XP_016868283.1:n.2572-219C>T | |
| XM_017012796.2:c.2128-219C>T | XP_016868285.1:n.2128-219C>T | |
| XM_017012798.2:c.2107-219C>T | XP_016868287.1:n.2107-219C>T | |
| XM_024446998.1:c.1498-219C>T | XP_024302766.1:n.1498-219C>T | |
| NM_017954.11:c.2590-219C>T MANE Select | NP_060424.9:n.2590-219C>T | |
| NM_001009571.4:c.2572-219C>T | NP_001009571.2:n.2572-219C>T | |
| NM_001167940.2:c.2602-219C>T | NP_001161412.1:n.2602-219C>T | |
| NM_001363389.2:c.2611-219C>T | NP_001350318.1:n.2611-219C>T | |
| NM_001363390.2:c.2611-219C>T | NP_001350319.1:n.2611-219C>T | |
| NM_001363391.2:c.2602-219C>T | NP_001350320.1:n.2602-219C>T | |
| NM_001363392.2:c.2611-219C>T | NP_001350321.1:n.2611-219C>T | |
| NM_001363393.2:c.2611-219C>T | NP_001350322.1:n.2611-219C>T | |
| NM_001363394.2:c.2602-219C>T | NP_001350323.1:n.2602-219C>T | |
| NM_001363395.2:c.2593-219C>T | NP_001350324.1:n.2593-219C>T | |
| NM_001363396.2:c.2590-219C>T | NP_001350325.1:n.2590-219C>T | |
| NM_001363397.2:c.2581-219C>T | NP_001350326.1:n.2581-219C>T | |
| NM_001363398.2:c.2572-219C>T | NP_001350327.1:n.2572-219C>T | |
| NM_001363399.2:c.2128-219C>T | NP_001350328.1:n.2128-219C>T | |
| NM_001363400.2:c.2128-219C>T | NP_001350329.1:n.2128-219C>T |