Linked Data
dbSNP Id:
rs748117257
ExAC:
2:225368570 C / T
gnomAD v2:
2-225368570-C-T
gnomAD v4:
2-224503853-C-T
COSMIC:
COSN22909400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503853C>T , CM000664.2:g.224503853C>T | GRCh38 |
| NC_000002.11:g.225368570C>T , CM000664.1:g.225368570C>T | GRCh37 |
| NC_000002.10:g.225076814C>T | NCBI36 |
| NG_032169.1:g.86545G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264414.9:c.1207-31G>A MANE Select | ENSP00000264414.4:n.1207-31G>A | |
| ENST00000264414.8:c.1207-31G>A | ENSP00000264414.4:n.1207-31G>A | |
| ENST00000344951.8:c.1009-31G>A | ENSP00000343601.4:n.1009-31G>A | |
| ENST00000409096.5:c.1135-31G>A | ENSP00000387200.1:n.1135-31G>A | |
| ENST00000409777.5:c.1135-31G>A | ENSP00000386525.1:n.1135-31G>A | |
| ENST00000481135.1:n.472G>A | ||
| ENST00000617432.4:c.-70-31G>A | ENSP00000477851.1:n.-70-31G>A | |
| NM_001257197.1:c.1009-31G>A | NP_001244126.1:n.1009-31G>A | |
| NM_001257198.1:c.1225-31G>A | NP_001244127.1:n.1225-31G>A | |
| NM_003590.4:c.1207-31G>A | NP_003581.1:n.1207-31G>A | |
| XM_006712800.2:c.1174-31G>A | XP_006712863.2:n.1174-31G>A | |
| XM_011511994.1:c.1060-31G>A | XP_011510296.1:n.1060-31G>A | |
| XM_011511995.1:c.1165-31G>A | XP_011510297.1:n.1165-31G>A | |
| XM_011511996.1:c.1015-31G>A | XP_011510298.1:n.1015-31G>A | |
| XM_011511997.1:c.907-31G>A | XP_011510299.1:n.907-31G>A | |
| XM_011511994.3:c.1060-31G>A | XP_011510296.1:n.1060-31G>A | |
| XM_011511996.2:c.1015-31G>A | XP_011510298.1:n.1015-31G>A | |
| NM_003590.5:c.1207-31G>A MANE Select | NP_003581.1:n.1207-31G>A | |
| NM_001257198.2:c.1225-31G>A | NP_001244127.1:n.1225-31G>A | |
| NM_001257197.2:c.1009-31G>A | NP_001244126.1:n.1009-31G>A |