Linked Data
ClinVar Variation Id:
2707410
ClinVar RCV Id:
RCV003536443
MyVariant Identifiers:
chr5:g.13776609G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776500G>C , CM000667.2:g.13776500G>C | GRCh38 |
| NC_000005.9:g.13776609G>C , CM000667.1:g.13776609G>C | GRCh37 |
| NC_000005.8:g.13829609G>C | NCBI36 |
| NG_013081.1:g.172981C>G | |
| NG_013081.2:g.172981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9312C>G MANE Select | ENSP00000265104.4:p.Ala3104= | |
| ENST00000681290.1:c.9267C>G | ENSP00000505288.1:p.Ala3089= | |
| ENST00000265104.4:c.9312C>G | ENSP00000265104.4:p.Ala3104= | |
| NM_001369.2:c.9312C>G | NP_001360.1:p.Ala3104= | |
| XM_005248262.2:c.9267C>G | XP_005248319.1:p.Ala3089= | |
| XM_005248262.3:c.9420C>G | XP_005248319.2:p.Ala3140= | |
| XM_017009177.1:c.9420C>G | XP_016864666.1:p.Ala3140= | |
| XM_017009178.1:c.8325C>G | XP_016864667.1:p.Ala2775= | |
| XM_017009179.2:c.8325C>G | XP_016864668.1:p.Ala2775= | |
| XM_017009180.1:c.9420C>G | XP_016864669.1:p.Ala3140= | |
| XM_017009181.1:c.9420C>G | XP_016864670.1:p.Ala3140= | |
| XM_017009182.1:c.9420C>G | XP_016864671.1:p.Ala3140= | |
| XM_017009183.1:c.9420C>G | XP_016864672.1:p.Ala3140= | |
| XM_017009185.1:c.4509C>G | XP_016864674.1:p.Ala1503= | |
| XM_017009186.1:c.4062C>G | XP_016864675.1:p.Ala1354= | |
| XM_017009188.1:c.3399C>G | XP_016864677.1:p.Ala1133= | |
| XM_024454388.1:c.8325C>G | XP_024310156.1:p.Ala2775= | |
| XM_024454389.1:c.7914C>G | XP_024310157.1:p.Ala2638= | |
| NM_001369.3:c.9312C>G MANE Select | NP_001360.1:p.Ala3104= |