Linked Data
ClinVar Variation Id:
746208
ClinVar RCV Id:
RCV000922801
dbSNP Id:
rs562661771
ExAC:
17:1639410 C / T
gnomAD v2:
17-1639410-C-T
gnomAD v3:
17-1736116-C-T
gnomAD v4:
17-1736116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1736116C>T , CM000679.2:g.1736116C>T | GRCh38 |
| NC_000017.10:g.1639410C>T , CM000679.1:g.1639410C>T | GRCh37 |
| NC_000017.9:g.1586160C>T | NCBI36 |
| NG_032811.1:g.24594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.5403C>T MANE Select | ENSP00000386609.1:p.Val1801= | |
| ENST00000309182.9:c.2250C>T | ENSP00000312074.5:p.Val750= | |
| ENST00000409644.5:c.5403C>T | ENSP00000386609.1:p.Val1801= | |
| ENST00000419248.5:c.1722C>T | ENSP00000407845.1:p.Val574= | |
| ENST00000437219.6:c.1794C>T | ENSP00000391074.2:p.Val598= | |
| ENST00000446363.5:c.1320C>T | ENSP00000401560.1:p.Val440= | |
| ENST00000464528.5:n.3110C>T | ||
| NM_001163673.1:c.1794C>T | NP_001157145.1:p.Val598= | |
| NM_001163809.1:c.5403C>T | NP_001157281.1:p.Val1801= | |
| NM_001163811.1:c.1722C>T | NP_001157283.1:p.Val574= | |
| NM_152348.3:c.2250C>T | NP_689561.2:p.Val750= | |
| XM_011523651.1:c.2250C>T | XP_011521953.1:p.Val750= | |
| XM_011523651.2:c.2250C>T | XP_011521953.1:p.Val750= | |
| XM_017024184.1:c.5326-20C>T | XP_016879673.1:n.5326-20C>T | |
| XR_001752427.1:n.5569C>T | ||
| XR_933973.2:n.5500C>T | ||
| NM_001163809.2:c.5403C>T MANE Select | NP_001157281.1:p.Val1801= | |
| NM_001163811.2:c.1722C>T | NP_001157283.1:p.Val574= | |
| NM_152348.4:c.2250C>T | NP_689561.2:p.Val750= | |
| NM_001163673.2:c.1794C>T | NP_001157145.1:p.Val598= |