Linked Data
ClinVar Variation Id:
2415225
dbSNP Id:
rs1262964096
gnomAD v3:
17-7220643-C-A
gnomAD v4:
17-7220643-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220643C>A , CM000679.2:g.7220643C>A | GRCh38 |
| NC_000017.10:g.7123962C>A , CM000679.1:g.7123962C>A | GRCh37 |
| NC_000017.9:g.7064686C>A | NCBI36 |
| NG_007975.1:g.5810C>A | |
| NG_008391.2:g.4408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.244C>A MANE Select | ENSP00000349297.5:p.Leu82Ile | |
| ENST00000322910.9:c.*199C>A | ENSP00000325395.5:n.*199C>A | |
| ENST00000350303.9:c.178C>A | ENSP00000344152.5:p.Leu60Ile | |
| ENST00000356839.9:c.244C>A | ENSP00000349297.5:p.Leu82Ile | |
| ENST00000543245.6:c.313C>A | ENSP00000438689.2:p.Leu105Ile | |
| ENST00000577191.5:n.321C>A | ||
| ENST00000577433.5:n.452C>A | ||
| ENST00000577857.5:n.229-123C>A | ||
| ENST00000578269.5:n.691C>A | ||
| ENST00000578421.1:n.452C>A | ||
| ENST00000579286.5:n.425C>A | ||
| ENST00000579886.2:c.201+117C>A | ENSP00000463246.1:n.201+117C>A | |
| ENST00000580263.5:n.408C>A | ||
| ENST00000581562.5:n.291C>A | ||
| ENST00000582056.5:n.334C>A | ||
| ENST00000582166.1:n.132C>A | ||
| ENST00000582356.5:n.443C>A | ||
| ENST00000583312.5:c.244C>A | ENSP00000467920.1:p.Leu82Ile | |
| ENST00000584103.5:c.244C>A | ENSP00000465353.1:p.Leu82Ile | |
| NM_000018.3:c.244C>A | NP_000009.1:p.Leu82Ile | |
| NM_001033859.2:c.178C>A | NP_001029031.1:p.Leu60Ile | |
| NM_001270447.1:c.313C>A | NP_001257376.1:p.Leu105Ile | |
| NM_001270448.1:c.16C>A | NP_001257377.1:p.Leu6Ile | |
| XM_006721516.2:c.244C>A | XP_006721579.2:p.Leu82Ile | |
| XM_011523829.1:c.244C>A | XP_011522131.1:p.Leu82Ile | |
| XM_011523830.1:c.244C>A | XP_011522132.1:p.Leu82Ile | |
| XR_934021.1:n.351C>A | ||
| XR_934022.1:n.351C>A | ||
| XR_934023.1:n.351C>A | ||
| XM_006721516.3:c.244C>A | XP_006721579.2:p.Leu82Ile | |
| XM_011523829.2:c.244C>A | XP_011522131.1:p.Leu82Ile | |
| XM_011523830.2:c.244C>A | XP_011522132.1:p.Leu82Ile | |
| XM_024450741.1:c.244C>A | XP_024306509.1:p.Leu82Ile | |
| XR_934021.2:n.303C>A | ||
| XR_934022.2:n.303C>A | ||
| XR_934023.2:n.303C>A | ||
| NM_000018.4:c.244C>A MANE Select | NP_000009.1:p.Leu82Ile | |
| NM_001033859.3:c.178C>A | NP_001029031.1:p.Leu60Ile | |
| NM_001270447.2:c.313C>A | NP_001257376.1:p.Leu105Ile | |
| NM_001270448.2:c.16C>A | NP_001257377.1:p.Leu6Ile |