Linked Data
dbSNP Id:
rs1217337780
gnomAD v2:
5-33531759-C-A
gnomAD v3:
5-33531654-C-A
gnomAD v4:
5-33531654-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33531654C>A , CM000667.2:g.33531654C>A | GRCh38 |
| NC_000005.9:g.33531759C>A , CM000667.1:g.33531759C>A | GRCh37 |
| NC_000005.8:g.33567516C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504830.6:c.4606+3179G>T MANE Select | ENSP00000422554.1:n.4606+3179G>T | |
| ENST00000352040.7:c.4351+3179G>T | ENSP00000344847.3:n.4351+3179G>T | |
| ENST00000504830.5:c.4606+3179G>T | ENSP00000422554.1:n.4606+3179G>T | |
| NM_030955.2:c.4606+3179G>T | NP_112217.2:n.4606+3179G>T | |
| XM_011514145.1:c.3835+3179G>T | XP_011512447.1:n.3835+3179G>T | |
| XM_011514147.1:c.2692+3179G>T | XP_011512449.1:n.2692+3179G>T | |
| NM_001324512.1:c.4351+3179G>T | NP_001311441.1:n.4351+3179G>T | |
| NM_030955.3:c.4606+3179G>T | NP_112217.2:n.4606+3179G>T | |
| XM_017009905.1:c.4717+3179G>T | XP_016865394.1:n.4717+3179G>T | |
| XM_017009906.1:c.4225+3179G>T | XP_016865395.1:n.4225+3179G>T | |
| XM_017009907.1:c.3160+3179G>T | XP_016865396.1:n.3160+3179G>T | |
| XM_017009908.1:c.2803+3179G>T | XP_016865397.1:n.2803+3179G>T | |
| XM_017009909.1:c.2791+3179G>T | XP_016865398.1:n.2791+3179G>T | |
| NM_030955.4:c.4606+3179G>T MANE Select | NP_112217.2:n.4606+3179G>T | |
| NM_001324512.2:c.4351+3179G>T | NP_001311441.1:n.4351+3179G>T |