Linked Data
dbSNP Id:
rs1266548454
gnomAD v2:
19-10568427-A-G
gnomAD v3:
19-10457751-A-G
gnomAD v4:
19-10457751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10457751A>G , CM000681.2:g.10457751A>G | GRCh38 |
| NC_000019.9:g.10568427A>G , CM000681.1:g.10568427A>G | GRCh37 |
| NC_000019.8:g.10429427A>G | NCBI36 |
| NG_029594.1:g.45979A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380702.7:c.878-128A>G MANE Select | ENSP00000370078.3:n.878-128A>G | |
| ENST00000293683.9:c.800-128A>G | ENSP00000293683.4:n.800-128A>G | |
| ENST00000344979.7:c.161-128A>G | ENSP00000341007.2:n.161-128A>G | |
| ENST00000380702.6:c.878-128A>G | ENSP00000370078.3:n.878-128A>G | |
| ENST00000440014.6:c.695-128A>G | ENSP00000394754.1:n.695-128A>G | |
| ENST00000586275.1:n.141-128A>G | ||
| ENST00000589073.1:c.160+2829A>G | ENSP00000465792.1:n.160+2829A>G | |
| ENST00000591971.5:c.206-128A>G | ENSP00000467137.1:n.206-128A>G | |
| ENST00000592685.5:c.812-128A>G | ENSP00000468507.1:n.812-128A>G | |
| NM_001111307.1:c.878-128A>G | NP_001104777.1:n.878-128A>G | |
| NM_001111308.1:c.800-128A>G | NP_001104778.1:n.800-128A>G | |
| NM_001111309.1:c.695-128A>G | NP_001104779.1:n.695-128A>G | |
| NM_001243121.1:c.812-128A>G | NP_001230050.1:n.812-128A>G | |
| NM_006202.2:c.161-128A>G | NP_006193.1:n.161-128A>G | |
| XM_005259933.2:c.-65A>G | XP_005259990.1:n.-65A>G | |
| XM_011528054.1:c.812-128A>G | XP_011526356.1:n.812-128A>G | |
| XM_011528055.1:c.878-128A>G | XP_011526357.1:n.878-128A>G | |
| XM_011528055.3:c.878-128A>G | XP_011526357.1:n.878-128A>G | |
| XM_017026865.2:c.875-128A>G | XP_016882354.1:n.875-128A>G | |
| XM_024451534.1:c.-65A>G | XP_024307302.1:n.-65A>G | |
| NM_001111307.2:c.878-128A>G MANE Select | NP_001104777.1:n.878-128A>G | |
| NM_006202.3:c.161-128A>G | NP_006193.1:n.161-128A>G | |
| NM_001243121.2:c.812-128A>G | NP_001230050.1:n.812-128A>G |