Linked Data
ClinVar Variation Id:
321941
dbSNP Id:
rs537063695
ExAC:
17:15903308 C / T
gnomAD v2:
17-15903308-C-T
gnomAD v3:
17-15999994-C-T
gnomAD v4:
17-15999994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999994C>T , CM000679.2:g.15999994C>T | GRCh38 |
| NC_000017.10:g.15903308C>T , CM000679.1:g.15903308C>T | GRCh37 |
| NC_000017.9:g.15844033C>T | NCBI36 |
| NG_029806.1:g.5615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.146C>T MANE Select | ENSP00000261647.5:p.Pro49Leu | |
| ENST00000261647.9:c.146C>T | ENSP00000261647.5:p.Pro49Leu | |
| ENST00000466729.5:c.211C>T | ||
| ENST00000470399.1:c.161C>T | ENSP00000465082.1:p.Pro54Leu | |
| ENST00000475723.5:c.193C>T | ||
| ENST00000497842.6:n.171C>T | ||
| ENST00000583704.1:n.171C>T | ||
| NM_001271420.1:c.-313C>T | NP_001258349.1:n.-313C>T | |
| NM_017775.3:c.146C>T | NP_060245.3:p.Pro49Leu | |
| XM_011523950.1:c.146C>T | XP_011522252.1:p.Pro49Leu | |
| XM_017024801.2:c.146C>T | XP_016880290.2:p.Pro49Leu | |
| XM_017024802.2:c.146C>T | XP_016880291.2:p.Pro49Leu | |
| XM_024450814.1:c.146C>T | XP_024306582.1:p.Pro49Leu | |
| NM_017775.4:c.146C>T MANE Select | NP_060245.3:p.Pro49Leu | |
| NM_001271420.2:c.-313C>T | NP_001258349.1:n.-313C>T |