Linked Data
ClinVar Variation Id:
31819
dbSNP Id:
rs138313730
ExAC:
10:69959320 C / A
gnomAD v2:
10-69959320-C-A
gnomAD v3:
10-68199563-C-A
gnomAD v4:
10-68199563-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199563C>A , CM000672.2:g.68199563C>A | GRCh38 |
| NC_000010.10:g.69959320C>A , CM000672.1:g.69959320C>A | GRCh37 |
| NC_000010.9:g.69629326C>A | NCBI36 |
| NG_032118.1:g.98447C>A , LRG_410:g.98447C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2656C>A | ENSP00000346369.2:p.Leu886Ile | |
| ENST00000540630.6:c.3535C>A | ENSP00000441668.3:p.Leu1179Ile | |
| ENST00000613327.5:c.3481C>A | ENSP00000480757.2:p.Leu1161Ile | |
| ENST00000688812.1:c.*744C>A | ENSP00000510658.1:n.*744C>A | |
| ENST00000690544.1:c.*2752C>A | ENSP00000508989.1:n.*2752C>A | |
| ENST00000358913.10:c.3481C>A MANE Select | ENSP00000351790.5:p.Leu1161Ile | |
| ENST00000354393.6:c.2656C>A | ENSP00000346369.2:p.Leu886Ile | |
| ENST00000358913.9:c.3481C>A | ENSP00000351790.5:p.Leu1161Ile | |
| ENST00000540630.5:c.3481C>A | ENSP00000441668.2:p.Leu1161Ile | |
| ENST00000613327.4:c.2599C>A | ENSP00000480757.1:p.Leu867Ile | |
| NM_001256267.1:c.3481C>A | NP_001243196.1:p.Leu1161Ile | |
| NM_001256268.1:c.2599C>A | NP_001243197.1:p.Leu867Ile | |
| NM_032578.3:c.3481C>A , LRG_410t1:c.3481C>A | NP_115967.2:p.Leu1161Ile | |
| NR_045662.3:n.2908C>A | ||
| NR_045663.3:n.3610C>A | ||
| XM_006718043.2:c.3535C>A | XP_006718106.1:p.Leu1179Ile | |
| XM_011540292.1:c.3511C>A | XP_011538594.1:p.Leu1171Ile | |
| XR_946029.1:n.1804-288G>T | ||
| XM_017016833.1:c.3559C>A | XP_016872322.1:p.Leu1187Ile | |
| XM_017016834.2:c.3481C>A | XP_016872323.1:p.Leu1161Ile | |
| XM_024448236.1:c.2359C>A | XP_024304004.1:p.Leu787Ile | |
| NR_045662.4:n.3018C>A | ||
| NR_045663.4:n.3555C>A | ||
| NM_001256267.2:c.3481C>A | NP_001243196.1:p.Leu1161Ile | |
| NM_001256268.2:c.2599C>A | NP_001243197.1:p.Leu867Ile | |
| NM_032578.4:c.3481C>A MANE Select | NP_115967.2:p.Leu1161Ile |