Linked Data
ClinVar Variation Id:
1670673
ClinVar RCV Id:
RCV002203964
dbSNP Id:
rs2126785777
MyVariant Identifiers:
chr5:g.13770920A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770811A>G , CM000667.2:g.13770811A>G | GRCh38 |
| NC_000005.9:g.13770920A>G , CM000667.1:g.13770920A>G | GRCh37 |
| NC_000005.8:g.13823920A>G | NCBI36 |
| NG_013081.1:g.178670T>C | |
| NG_013081.2:g.178670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9543T>C MANE Select | ENSP00000265104.4:p.Phe3181= | |
| ENST00000681290.1:c.9498T>C | ENSP00000505288.1:p.Phe3166= | |
| ENST00000265104.4:c.9543T>C | ENSP00000265104.4:p.Phe3181= | |
| ENST00000504001.3:n.255T>C | ||
| NM_001369.2:c.9543T>C | NP_001360.1:p.Phe3181= | |
| XM_005248262.2:c.9498T>C | XP_005248319.1:p.Phe3166= | |
| XM_005248262.3:c.9651T>C | XP_005248319.2:p.Phe3217= | |
| XM_017009177.1:c.9651T>C | XP_016864666.1:p.Phe3217= | |
| XM_017009178.1:c.8556T>C | XP_016864667.1:p.Phe2852= | |
| XM_017009179.2:c.8556T>C | XP_016864668.1:p.Phe2852= | |
| XM_017009180.1:c.9651T>C | XP_016864669.1:p.Phe3217= | |
| XM_017009181.1:c.9651T>C | XP_016864670.1:p.Phe3217= | |
| XM_017009182.1:c.9651T>C | XP_016864671.1:p.Phe3217= | |
| XM_017009183.1:c.9651T>C | XP_016864672.1:p.Phe3217= | |
| XM_017009185.1:c.4740T>C | XP_016864674.1:p.Phe1580= | |
| XM_017009186.1:c.4293T>C | XP_016864675.1:p.Phe1431= | |
| XM_017009188.1:c.3630T>C | XP_016864677.1:p.Phe1210= | |
| XM_024454388.1:c.8556T>C | XP_024310156.1:p.Phe2852= | |
| XM_024454389.1:c.8145T>C | XP_024310157.1:p.Phe2715= | |
| NM_001369.3:c.9543T>C MANE Select | NP_001360.1:p.Phe3181= |