Linked Data
dbSNP Id:
rs2967951
gnomAD v2:
5-10464107-C-T
gnomAD v3:
5-10463995-C-T
gnomAD v4:
5-10463995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10463995C>T , CM000667.2:g.10463995C>T | GRCh38 |
| NC_000005.9:g.10464107C>T , CM000667.1:g.10464107C>T | GRCh37 |
| NC_000005.8:g.10517107C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274134.5:c.594-853C>T MANE Select | ENSP00000274134.4:n.594-853C>T | |
| ENST00000274134.4:c.594-853C>T | ENSP00000274134.4:n.594-853C>T | |
| ENST00000503804.5:c.594-853C>T | ENSP00000421405.1:n.594-853C>T | |
| ENST00000510520.5:n.885+2636C>T | ||
| NM_001201466.1:c.594-853C>T | NP_001188395.1:n.594-853C>T | |
| NM_031916.4:c.594-853C>T | NP_114122.2:n.594-853C>T | |
| XM_006714503.2:c.593+2636C>T | XP_006714566.1:n.593+2636C>T | |
| XM_006714504.2:c.593+2636C>T | XP_006714567.1:n.593+2636C>T | |
| XM_011514190.1:c.26C>T | XP_011512492.1:p.Thr9Ile | |
| XM_006714504.3:c.593+2636C>T | XP_006714567.1:n.593+2636C>T | |
| XM_011514190.2:c.26C>T | XP_011512492.1:p.Thr9Ile | |
| XM_017009946.2:c.593+2636C>T | XP_016865435.1:n.593+2636C>T | |
| XM_017009947.2:c.593+2636C>T | XP_016865436.1:n.593+2636C>T | |
| NM_031916.5:c.594-853C>T MANE Select | NP_114122.2:n.594-853C>T | |
| NM_001201466.2:c.594-853C>T | NP_001188395.1:n.594-853C>T |