Linked Data
ClinVar Variation Id:
1641107
ClinVar RCV Id:
RCV002140035
dbSNP Id:
rs368630153
ExAC:
5:90119432 C / T
gnomAD v2:
5-90119432-C-T
gnomAD v3:
5-90823615-C-T
gnomAD v4:
5-90823615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823615C>T , CM000667.2:g.90823615C>T | GRCh38 |
| NC_000005.9:g.90119432C>T , CM000667.1:g.90119432C>T | GRCh37 |
| NC_000005.8:g.90155188C>T | NCBI36 |
| NG_007083.1:g.269816C>T | |
| NG_007083.2:g.299272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16368+19C>T MANE Select | ENSP00000384582.2:n.16368+19C>T | |
| ENST00000425867.3:c.5322+19C>T | ENSP00000392618.3:n.5322+19C>T | |
| ENST00000638510.1:n.3635+19C>T | ||
| ENST00000639431.1:c.265+147406C>T | ENSP00000491057.1:n.265+147406C>T | |
| ENST00000640061.1:n.128+1433C>T | ||
| ENST00000640407.1:c.2778+19C>T | ENSP00000491425.1:n.2778+19C>T | |
| ENST00000405460.6:c.16368+19C>T | ENSP00000384582.2:n.16368+19C>T | |
| ENST00000425867.2:c.3351+19C>T | ENSP00000392618.2:n.3351+19C>T | |
| NM_032119.3:c.16368+19C>T | NP_115495.3:n.16368+19C>T | |
| NR_003149.1:n.16381+19C>T | ||
| XM_011543675.1:c.16365+19C>T | XP_011541977.1:n.16365+19C>T | |
| XM_011543676.1:c.16287+19C>T | XP_011541978.1:n.16287+19C>T | |
| XM_011543677.1:c.13671+19C>T | XP_011541979.1:n.13671+19C>T | |
| NM_032119.4:c.16368+19C>T MANE Select | NP_115495.3:n.16368+19C>T | |
| XM_017009963.2:c.16389+19C>T | XP_016865452.1:n.16389+19C>T | |
| XM_017009964.2:c.16386+19C>T | XP_016865453.1:n.16386+19C>T | |
| XM_017009965.1:c.16386+19C>T | XP_016865454.1:n.16386+19C>T | |
| XM_017009966.2:c.16308+19C>T | XP_016865455.1:n.16308+19C>T | |
| XM_017009967.1:c.16293+19C>T | XP_016865456.1:n.16293+19C>T | |
| XM_017009968.2:c.16209+19C>T | XP_016865457.1:n.16209+19C>T | |
| XM_017009969.2:c.16389+19C>T | XP_016865458.1:n.16389+19C>T | |
| XM_017009972.1:c.9507+19C>T | XP_016865461.1:n.9507+19C>T | |
| XM_017009973.1:c.9486+19C>T | XP_016865462.1:n.9486+19C>T | |
| NR_003149.2:n.16384+19C>T |