Linked Data
dbSNP Id:
rs369830305
ExAC:
9:133364884 C / T
gnomAD v2:
9-133364884-C-T
gnomAD v3:
9-130489497-C-T
gnomAD v4:
9-130489497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489497C>T , CM000671.2:g.130489497C>T | GRCh38 |
| NC_000009.11:g.133364884C>T , CM000671.1:g.133364884C>T | GRCh37 |
| NC_000009.10:g.132354705C>T | NCBI36 |
| NG_011542.1:g.49791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.970+33C>T MANE Select | ENSP00000253004.6:n.970+33C>T | |
| ENST00000352480.9:c.970+33C>T | ENSP00000253004.6:n.970+33C>T | |
| ENST00000372386.6:n.241+33C>T | ||
| ENST00000372393.7:c.970+33C>T | ENSP00000361469.2:n.970+33C>T | |
| ENST00000372394.5:c.970+33C>T | ENSP00000361471.1:n.970+33C>T | |
| NM_000050.4:c.970+33C>T | NP_000041.2:n.970+33C>T | |
| NM_054012.3:c.970+33C>T | NP_446464.1:n.970+33C>T | |
| XM_005272200.2:c.970+33C>T | XP_005272257.1:n.970+33C>T | |
| XM_011518705.1:c.1084+33C>T | XP_011517007.1:n.1084+33C>T | |
| XM_005272200.3:c.970+33C>T | XP_005272257.1:n.970+33C>T | |
| XM_011518705.2:c.1084+33C>T | XP_011517007.1:n.1084+33C>T | |
| XM_017014729.1:c.1066+33C>T | XP_016870218.1:n.1066+33C>T | |
| NM_054012.4:c.970+33C>T MANE Select | NP_446464.1:n.970+33C>T |