Linked Data
ClinVar Variation Id:
2800336
ClinVar RCV Id:
RCV003671459
gnomAD v4:
16-16154980-G-A
MyVariant Identifiers:
chr16:g.16248837G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154980G>A , CM000678.2:g.16154980G>A | GRCh38 |
| NC_000016.9:g.16248837G>A , CM000678.1:g.16248837G>A | GRCh37 |
| NC_000016.8:g.16156338G>A | NCBI36 |
| NG_007558.2:g.73492C>T | |
| NG_007558.3:g.73638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.797C>T | ||
| ENST00000622290.5:c.*106C>T | ENSP00000483331.2:n.*106C>T | |
| ENST00000205557.12:c.3934C>T MANE Select | ENSP00000205557.7:p.Leu1312= | |
| ENST00000640696.1:c.748C>T | ENSP00000492197.1:p.Leu250= | |
| ENST00000205557.11:c.3934C>T | ENSP00000205557.7:p.Leu1312= | |
| ENST00000456970.6:c.3559C>T | ENSP00000405002.2:n.3559C>T | |
| ENST00000576204.5:n.797C>T | ||
| ENST00000622290.4:c.*1143C>T | ENSP00000483331.1:n.*1143C>T | |
| NM_001171.5:c.3934C>T | NP_001162.4:p.Leu1312= | |
| XM_011522479.1:c.3901C>T | XP_011520781.1:p.Leu1301= | |
| XM_011522480.1:c.3592C>T | XP_011520782.1:p.Leu1198= | |
| XM_011522481.1:c.3592C>T | XP_011520783.1:p.Leu1198= | |
| XR_932836.1:n.4232C>T | ||
| XR_932837.1:n.3970C>T | ||
| XR_932838.1:n.4033C>T | ||
| XR_933134.1:n.539-4801G>A | ||
| NM_001351800.1:c.3592C>T | NP_001338729.1:p.Leu1198= | |
| NR_147784.1:n.3596C>T | ||
| XM_011522479.2:c.3901C>T | XP_011520781.1:p.Leu1301= | |
| XM_011522481.3:c.3592C>T | XP_011520783.1:p.Leu1198= | |
| XM_017023212.1:c.3766C>T | XP_016878701.1:p.Leu1256= | |
| XM_024450261.1:c.3970C>T | XP_024306029.1:p.Leu1324= | |
| XR_932836.2:n.4178C>T | ||
| XR_932837.3:n.3915C>T | ||
| XR_932838.3:n.3978C>T | ||
| NM_001171.6:c.3934C>T MANE Select | NP_001162.5:p.Leu1312= |