Linked Data
dbSNP Id:
rs10093972
gnomAD v2:
8-9451369-T-C
gnomAD v3:
8-9593859-T-C
gnomAD v4:
8-9593859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.9593859T>C , CM000670.2:g.9593859T>C | GRCh38 |
| NC_000008.10:g.9451369T>C , CM000670.1:g.9451369T>C | GRCh37 |
| NC_000008.9:g.9488779T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517770.2:c.898+13476T>C | ENSP00000428185.2:n.898+13476T>C | |
| ENST00000310430.11:c.898+13476T>C MANE Select | ENSP00000311579.6:n.898+13476T>C | |
| ENST00000310430.10:c.898+13476T>C | ENSP00000311579.6:n.898+13476T>C | |
| ENST00000518281.5:c.187+13476T>C | ENSP00000429890.1:n.187+13476T>C | |
| ENST00000520408.5:c.898+13476T>C | ENSP00000428299.1:n.898+13476T>C | |
| NM_003747.2:c.898+13476T>C | NP_003738.2:n.898+13476T>C | |
| XM_006716263.2:c.898+13476T>C | XP_006716326.1:n.898+13476T>C | |
| XM_011543845.1:c.898+13476T>C | XP_011542147.1:n.898+13476T>C | |
| XM_011543846.1:c.898+13476T>C | XP_011542148.1:n.898+13476T>C | |
| XM_011543847.1:c.898+13476T>C | XP_011542149.1:n.898+13476T>C | |
| XM_006716263.4:c.898+13476T>C | XP_006716326.1:n.898+13476T>C | |
| XM_011543845.3:c.898+13476T>C | XP_011542147.1:n.898+13476T>C | |
| XM_011543846.3:c.898+13476T>C | XP_011542148.1:n.898+13476T>C | |
| NM_003747.3:c.898+13476T>C MANE Select | NP_003738.2:n.898+13476T>C |