Linked Data
ClinVar Variation Id:
433343
ClinVar RCV Id:
RCV000499074
dbSNP Id:
rs63750414
gnomAD v4:
16-16154910-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154910A>T , CM000678.2:g.16154910A>T | GRCh38 |
| NC_000016.9:g.16248767A>T , CM000678.1:g.16248767A>T | GRCh37 |
| NC_000016.8:g.16156268A>T | NCBI36 |
| NG_007558.2:g.73562T>A | |
| NG_007558.3:g.73708T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.867T>A | ||
| ENST00000622290.5:c.*176T>A | ENSP00000483331.2:n.*176T>A | |
| ENST00000205557.12:c.4004T>A MANE Select | ENSP00000205557.7:p.Leu1335Gln | |
| ENST00000640696.1:c.818T>A | ENSP00000492197.1:p.Leu273Gln | |
| ENST00000205557.11:c.4004T>A | ENSP00000205557.7:p.Leu1335Gln | |
| ENST00000456970.6:c.3629T>A | ENSP00000405002.2:n.3629T>A | |
| ENST00000576204.5:n.867T>A | ||
| ENST00000622290.4:c.*1213T>A | ENSP00000483331.1:n.*1213T>A | |
| NM_001171.5:c.4004T>A | NP_001162.4:p.Leu1335Gln | |
| XM_011522479.1:c.3971T>A | XP_011520781.1:p.Leu1324Gln | |
| XM_011522480.1:c.3662T>A | XP_011520782.1:p.Leu1221Gln | |
| XM_011522481.1:c.3662T>A | XP_011520783.1:p.Leu1221Gln | |
| XR_933134.1:n.539-4871A>T | ||
| NM_001351800.1:c.3662T>A | NP_001338729.1:p.Leu1221Gln | |
| NR_147784.1:n.3666T>A | ||
| XM_011522479.2:c.3971T>A | XP_011520781.1:p.Leu1324Gln | |
| XM_011522481.3:c.3662T>A | XP_011520783.1:p.Leu1221Gln | |
| XM_017023212.1:c.3836T>A | XP_016878701.1:p.Leu1279Gln | |
| XM_024450261.1:c.4040T>A | XP_024306029.1:p.Leu1347Gln | |
| NM_001171.6:c.4004T>A MANE Select | NP_001162.5:p.Leu1335Gln |