Linked Data
ClinVar Variation Id:
1767100
ClinVar RCV Id:
RCV002374069
dbSNP Id:
rs773045896
ExAC:
5:13770982 C / A
gnomAD v2:
5-13770982-C-A
gnomAD v3:
5-13770873-C-A
gnomAD v4:
5-13770873-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770873C>A , CM000667.2:g.13770873C>A | GRCh38 |
| NC_000005.9:g.13770982C>A , CM000667.1:g.13770982C>A | GRCh37 |
| NC_000005.8:g.13823982C>A | NCBI36 |
| NG_013081.1:g.178608G>T | |
| NG_013081.2:g.178608G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9481G>T MANE Select | ENSP00000265104.4:p.Val3161Phe | |
| ENST00000681290.1:c.9436G>T | ENSP00000505288.1:p.Val3146Phe | |
| ENST00000265104.4:c.9481G>T | ENSP00000265104.4:p.Val3161Phe | |
| ENST00000504001.3:n.193G>T | ||
| NM_001369.2:c.9481G>T | NP_001360.1:p.Val3161Phe | |
| XM_005248262.2:c.9436G>T | XP_005248319.1:p.Val3146Phe | |
| XM_005248262.3:c.9589G>T | XP_005248319.2:p.Val3197Phe | |
| XM_017009177.1:c.9589G>T | XP_016864666.1:p.Val3197Phe | |
| XM_017009178.1:c.8494G>T | XP_016864667.1:p.Val2832Phe | |
| XM_017009179.2:c.8494G>T | XP_016864668.1:p.Val2832Phe | |
| XM_017009180.1:c.9589G>T | XP_016864669.1:p.Val3197Phe | |
| XM_017009181.1:c.9589G>T | XP_016864670.1:p.Val3197Phe | |
| XM_017009182.1:c.9589G>T | XP_016864671.1:p.Val3197Phe | |
| XM_017009183.1:c.9589G>T | XP_016864672.1:p.Val3197Phe | |
| XM_017009185.1:c.4678G>T | XP_016864674.1:p.Val1560Phe | |
| XM_017009186.1:c.4231G>T | XP_016864675.1:p.Val1411Phe | |
| XM_017009188.1:c.3568G>T | XP_016864677.1:p.Val1190Phe | |
| XM_024454388.1:c.8494G>T | XP_024310156.1:p.Val2832Phe | |
| XM_024454389.1:c.8083G>T | XP_024310157.1:p.Val2695Phe | |
| NM_001369.3:c.9481G>T MANE Select | NP_001360.1:p.Val3161Phe |