Linked Data
dbSNP Id:
rs10504130
gnomAD v2:
8-52757093-G-A
gnomAD v3:
8-51844533-G-A
gnomAD v4:
8-51844533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.51844533G>A , CM000670.2:g.51844533G>A | GRCh38 |
| NC_000008.10:g.52757093G>A , CM000670.1:g.52757093G>A | GRCh37 |
| NC_000008.9:g.52919646G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000522514.6:c.410+1128C>T MANE Select | ENSP00000428099.1:n.410+1128C>T | |
| ENST00000360540.9:c.410+1128C>T | ENSP00000353739.5:n.410+1128C>T | |
| ENST00000519554.5:c.85+1128C>T | ||
| ENST00000519559.1:n.144+1128C>T | ||
| ENST00000522514.5:c.410+1128C>T | ENSP00000428099.1:n.410+1128C>T | |
| ENST00000544451.2:c.183-10844C>T | ENSP00000444026.1:n.183-10844C>T | |
| NM_001286782.1:c.183-10844C>T | NP_001273711.1:n.183-10844C>T | |
| NM_001286783.1:c.-311+1128C>T | NP_001273712.1:n.-311+1128C>T | |
| NM_052937.3:c.410+1128C>T | NP_443169.2:n.410+1128C>T | |
| XM_005251146.1:c.410+1128C>T | XP_005251203.1:n.410+1128C>T | |
| XM_011517444.1:c.-119+1128C>T | XP_011515746.1:n.-119+1128C>T | |
| XR_928755.1:n.742+1128C>T | ||
| NM_001363193.1:c.410+1128C>T | NP_001350122.1:n.410+1128C>T | |
| XR_001745466.2:n.742+1128C>T | ||
| NM_052937.4:c.410+1128C>T MANE Select | NP_443169.2:n.410+1128C>T | |
| NM_001286783.2:c.-311+1128C>T | NP_001273712.1:n.-311+1128C>T |