Linked Data
dbSNP Id:
rs1480184926
gnomAD v2:
2-225368599-G-A
gnomAD v3:
2-224503882-G-A
gnomAD v4:
2-224503882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503882G>A , CM000664.2:g.224503882G>A | GRCh38 |
| NC_000002.11:g.225368599G>A , CM000664.1:g.225368599G>A | GRCh37 |
| NC_000002.10:g.225076843G>A | NCBI36 |
| NG_032169.1:g.86516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1207-60C>T MANE Select | ENSP00000264414.4:n.1207-60C>T | |
| ENST00000264414.8:c.1207-60C>T | ENSP00000264414.4:n.1207-60C>T | |
| ENST00000344951.8:c.1009-60C>T | ENSP00000343601.4:n.1009-60C>T | |
| ENST00000409096.5:c.1135-60C>T | ENSP00000387200.1:n.1135-60C>T | |
| ENST00000409777.5:c.1135-60C>T | ENSP00000386525.1:n.1135-60C>T | |
| ENST00000481135.1:n.443C>T | ||
| ENST00000617432.4:c.-70-60C>T | ENSP00000477851.1:n.-70-60C>T | |
| NM_001257197.1:c.1009-60C>T | NP_001244126.1:n.1009-60C>T | |
| NM_001257198.1:c.1225-60C>T | NP_001244127.1:n.1225-60C>T | |
| NM_003590.4:c.1207-60C>T | NP_003581.1:n.1207-60C>T | |
| XM_006712800.2:c.1174-60C>T | XP_006712863.2:n.1174-60C>T | |
| XM_011511994.1:c.1060-60C>T | XP_011510296.1:n.1060-60C>T | |
| XM_011511995.1:c.1165-60C>T | XP_011510297.1:n.1165-60C>T | |
| XM_011511996.1:c.1015-60C>T | XP_011510298.1:n.1015-60C>T | |
| XM_011511997.1:c.907-60C>T | XP_011510299.1:n.907-60C>T | |
| XM_011511994.3:c.1060-60C>T | XP_011510296.1:n.1060-60C>T | |
| XM_011511996.2:c.1015-60C>T | XP_011510298.1:n.1015-60C>T | |
| NM_003590.5:c.1207-60C>T MANE Select | NP_003581.1:n.1207-60C>T | |
| NM_001257198.2:c.1225-60C>T | NP_001244127.1:n.1225-60C>T | |
| NM_001257197.2:c.1009-60C>T | NP_001244126.1:n.1009-60C>T |