Linked Data
ClinVar Variation Id:
390066
ClinVar RCV Id:
RCV000428185
dbSNP Id:
rs549216391
gnomAD v2:
9-133325696-C-T
gnomAD v3:
9-130450309-C-T
gnomAD v4:
9-130450309-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130450309C>T , CM000671.2:g.130450309C>T | GRCh38 |
| NC_000009.11:g.133325696C>T , CM000671.1:g.133325696C>T | GRCh37 |
| NC_000009.10:g.132315517C>T | NCBI36 |
| NG_011542.1:g.10603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.-5-1915C>T MANE Select | ENSP00000253004.6:n.-5-1915C>T | |
| ENST00000352480.9:c.-5-1915C>T | ENSP00000253004.6:n.-5-1915C>T | |
| ENST00000372393.7:c.-30C>T | ENSP00000361469.2:n.-30C>T | |
| ENST00000372394.5:c.-447-1293C>T | ENSP00000361471.1:n.-447-1293C>T | |
| ENST00000422569.5:c.-5-1915C>T | ENSP00000394212.1:n.-5-1915C>T | |
| NM_000050.4:c.-30C>T | NP_000041.2:n.-30C>T | |
| NM_054012.3:c.-5-1915C>T | NP_446464.1:n.-5-1915C>T | |
| XM_005272200.2:c.-5-1915C>T | XP_005272257.1:n.-5-1915C>T | |
| XM_011518705.1:c.85C>T | XP_011517007.1:p.Arg29Trp | |
| XM_005272200.3:c.-5-1915C>T | XP_005272257.1:n.-5-1915C>T | |
| XM_011518705.2:c.85C>T | XP_011517007.1:p.Arg29Trp | |
| XM_017014729.1:c.67C>T | XP_016870218.1:p.Arg23Trp | |
| NM_054012.4:c.-5-1915C>T MANE Select | NP_446464.1:n.-5-1915C>T |