Linked Data
dbSNP Id:
rs1053081283
gnomAD v2:
5-33530471-T-C
gnomAD v3:
5-33530366-T-C
gnomAD v4:
5-33530366-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33530366T>C , CM000667.2:g.33530366T>C | GRCh38 |
| NC_000005.9:g.33530471T>C , CM000667.1:g.33530471T>C | GRCh37 |
| NC_000005.8:g.33566228T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504830.6:c.4607-3000A>G MANE Select | ENSP00000422554.1:n.4607-3000A>G | |
| ENST00000352040.7:c.4352-3000A>G | ENSP00000344847.3:n.4352-3000A>G | |
| ENST00000504830.5:c.4607-3000A>G | ENSP00000422554.1:n.4607-3000A>G | |
| NM_030955.2:c.4607-3000A>G | NP_112217.2:n.4607-3000A>G | |
| XM_011514145.1:c.3836-3000A>G | XP_011512447.1:n.3836-3000A>G | |
| XM_011514147.1:c.2693-3000A>G | XP_011512449.1:n.2693-3000A>G | |
| NM_001324512.1:c.4352-3000A>G | NP_001311441.1:n.4352-3000A>G | |
| NM_030955.3:c.4607-3000A>G | NP_112217.2:n.4607-3000A>G | |
| XM_017009905.1:c.4718-3000A>G | XP_016865394.1:n.4718-3000A>G | |
| XM_017009906.1:c.4226-3000A>G | XP_016865395.1:n.4226-3000A>G | |
| XM_017009907.1:c.3161-3000A>G | XP_016865396.1:n.3161-3000A>G | |
| XM_017009908.1:c.2804-3000A>G | XP_016865397.1:n.2804-3000A>G | |
| XM_017009909.1:c.2792-3000A>G | XP_016865398.1:n.2792-3000A>G | |
| NM_030955.4:c.4607-3000A>G MANE Select | NP_112217.2:n.4607-3000A>G | |
| NM_001324512.2:c.4352-3000A>G | NP_001311441.1:n.4352-3000A>G |