Linked Data
ClinVar Variation Id:
351047
dbSNP Id:
rs138441172
ExAC:
5:13766120 A / G
gnomAD v2:
5-13766120-A-G
gnomAD v3:
5-13766011-A-G
gnomAD v4:
5-13766011-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13766011A>G , CM000667.2:g.13766011A>G | GRCh38 |
| NC_000005.9:g.13766120A>G , CM000667.1:g.13766120A>G | GRCh37 |
| NC_000005.8:g.13819120A>G | NCBI36 |
| NG_013081.1:g.183470T>C | |
| NG_013081.2:g.183470T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10066T>C MANE Select | ENSP00000265104.4:p.Leu3356= | |
| ENST00000681290.1:c.10021T>C | ENSP00000505288.1:p.Leu3341= | |
| ENST00000265104.4:c.10066T>C | ENSP00000265104.4:p.Leu3356= | |
| ENST00000504001.3:n.609+2949T>C | ||
| NM_001369.2:c.10066T>C | NP_001360.1:p.Leu3356= | |
| XM_005248262.2:c.10021T>C | XP_005248319.1:p.Leu3341= | |
| XM_005248262.3:c.10174T>C | XP_005248319.2:p.Leu3392= | |
| XM_017009177.1:c.10174T>C | XP_016864666.1:p.Leu3392= | |
| XM_017009178.1:c.9079T>C | XP_016864667.1:p.Leu3027= | |
| XM_017009179.2:c.9079T>C | XP_016864668.1:p.Leu3027= | |
| XM_017009180.1:c.10174T>C | XP_016864669.1:p.Leu3392= | |
| XM_017009181.1:c.10174T>C | XP_016864670.1:p.Leu3392= | |
| XM_017009182.1:c.10174T>C | XP_016864671.1:p.Leu3392= | |
| XM_017009185.1:c.5263T>C | XP_016864674.1:p.Leu1755= | |
| XM_017009186.1:c.4816T>C | XP_016864675.1:p.Leu1606= | |
| XM_017009188.1:c.4153T>C | XP_016864677.1:p.Leu1385= | |
| XM_024454388.1:c.9079T>C | XP_024310156.1:p.Leu3027= | |
| XM_024454389.1:c.8668T>C | XP_024310157.1:p.Leu2890= | |
| NM_001369.3:c.10066T>C MANE Select | NP_001360.1:p.Leu3356= |