Linked Data
ClinVar Variation Id:
1441160
ClinVar RCV Id:
RCV001950573
dbSNP Id:
rs776512349
ExAC:
16:16263589 A / T
gnomAD v2:
16-16263589-A-T
gnomAD v3:
16-16169732-A-T
gnomAD v4:
16-16169732-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169732A>T , CM000678.2:g.16169732A>T | GRCh38 |
| NC_000016.9:g.16263589A>T , CM000678.1:g.16263589A>T | GRCh37 |
| NC_000016.8:g.16171090A>T | NCBI36 |
| NG_007558.2:g.58740T>A | |
| NG_007558.3:g.58886T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2909T>A | ENSP00000483331.2:p.Leu970Gln | |
| ENST00000205557.12:c.2909T>A MANE Select | ENSP00000205557.7:p.Leu970Gln | |
| ENST00000205557.11:c.2909T>A | ENSP00000205557.7:p.Leu970Gln | |
| ENST00000456970.6:c.2734T>A | ENSP00000405002.2:n.2734T>A | |
| ENST00000622290.4:c.*118T>A | ENSP00000483331.1:n.*118T>A | |
| NM_001171.5:c.2909T>A | NP_001162.4:p.Leu970Gln | |
| XM_011522479.1:c.2876T>A | XP_011520781.1:p.Leu959Gln | |
| XM_011522480.1:c.2567T>A | XP_011520782.1:p.Leu856Gln | |
| XM_011522481.1:c.2567T>A | XP_011520783.1:p.Leu856Gln | |
| XR_932836.1:n.3144T>A | ||
| XR_932837.1:n.3145T>A | ||
| XR_932838.1:n.3145T>A | ||
| NM_001351800.1:c.2567T>A | NP_001338729.1:p.Leu856Gln | |
| NR_147784.1:n.2771T>A | ||
| XM_011522479.2:c.2876T>A | XP_011520781.1:p.Leu959Gln | |
| XM_011522481.3:c.2567T>A | XP_011520783.1:p.Leu856Gln | |
| XM_017023212.1:c.2741T>A | XP_016878701.1:p.Leu914Gln | |
| XM_017023214.1:c.2909T>A | XP_016878703.1:p.Leu970Gln | |
| XM_024450261.1:c.2945T>A | XP_024306029.1:p.Leu982Gln | |
| XR_932836.2:n.3090T>A | ||
| XR_932837.3:n.3090T>A | ||
| XR_932838.3:n.3090T>A | ||
| NM_001171.6:c.2909T>A MANE Select | NP_001162.5:p.Leu970Gln |