Linked Data
dbSNP Id:
rs1381861800
gnomAD v2:
4-24822900-T-A
gnomAD v3:
4-24821278-T-A
gnomAD v4:
4-24821278-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24821278T>A , CM000666.2:g.24821278T>A | GRCh38 |
| NC_000004.11:g.24822900T>A , CM000666.1:g.24822900T>A | GRCh37 |
| NC_000004.10:g.24431998T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635206.3:c.1028-191A>T MANE Select | ENSP00000488929.2:n.1028-191A>T | |
| ENST00000635206.2:c.1043-191A>T | ENSP00000488929.1:n.1043-191A>T | |
| ENST00000389609.8:c.1042+1219A>T | ENSP00000374260.4:n.1042+1219A>T | |
| ENST00000502801.1:c.373-12459A>T | ENSP00000427529.1:n.373-12459A>T | |
| ENST00000504487.5:c.1042+1219A>T | ENSP00000425715.1:n.1042+1219A>T | |
| ENST00000508236.1:n.550-191A>T | ||
| ENST00000635206.1:c.1043-191A>T | ENSP00000488929.1:n.1043-191A>T | |
| NM_001130726.2:c.1042+1219A>T | NP_001124198.1:n.1042+1219A>T | |
| NM_173463.4:c.1042+1219A>T | NP_775734.2:n.1042+1219A>T | |
| XM_005248210.2:c.1043-191A>T | XP_005248267.1:n.1043-191A>T | |
| XM_011513906.1:c.1043-191A>T | XP_011512208.1:n.1043-191A>T | |
| XM_011513907.1:c.878-191A>T | XP_011512209.1:n.878-191A>T | |
| XM_011513908.1:c.878-191A>T | XP_011512210.1:n.878-191A>T | |
| NM_001130726.3:c.1042+1219A>T | NP_001124198.1:n.1042+1219A>T | |
| NM_001330643.1:c.1043-191A>T | NP_001317572.1:n.1043-191A>T | |
| NM_001330644.1:c.877+1219A>T | NP_001317573.1:n.877+1219A>T | |
| NM_173463.5:c.1042+1219A>T | NP_775734.2:n.1042+1219A>T | |
| XM_011513906.3:c.1043-191A>T | XP_011512208.1:n.1043-191A>T | |
| XM_011513907.3:c.878-191A>T | XP_011512209.1:n.878-191A>T | |
| XM_011513908.2:c.878-191A>T | XP_011512210.1:n.878-191A>T | |
| XM_017008827.2:c.1042+1219A>T | XP_016864316.1:n.1042+1219A>T | |
| NM_001130726.4:c.1042+1219A>T | NP_001124198.1:n.1042+1219A>T | |
| NM_001330643.2:c.1043-191A>T | NP_001317572.1:n.1043-191A>T | |
| NM_001330644.2:c.877+1219A>T | NP_001317573.1:n.877+1219A>T | |
| NM_173463.6:c.1042+1219A>T | NP_775734.2:n.1042+1219A>T | |
| NM_001130726.5:c.1027+1219A>T | NP_001124198.2:n.1027+1219A>T | |
| NM_001395273.1:c.1028-191A>T MANE Select | NP_001382202.1:n.1028-191A>T |