Linked Data
ClinVar Variation Id:
433461
ClinVar RCV Id:
RCV000499210
dbSNP Id:
rs1311228469
gnomAD v2:
16-16251612-G-A
gnomAD v3:
16-16157755-G-A
gnomAD v4:
16-16157755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157755G>A , CM000678.2:g.16157755G>A | GRCh38 |
| NC_000016.9:g.16251612G>A , CM000678.1:g.16251612G>A | GRCh37 |
| NC_000016.8:g.16159113G>A | NCBI36 |
| NG_007558.2:g.70717C>T | |
| NG_007558.3:g.70863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3790C>T | ENSP00000483331.2:p.Gln1264Ter | |
| ENST00000205557.12:c.3790C>T MANE Select | ENSP00000205557.7:p.Gln1264Ter | |
| ENST00000640696.1:c.604C>T | ENSP00000492197.1:p.Gln202Ter | |
| ENST00000205557.11:c.3790C>T | ENSP00000205557.7:p.Gln1264Ter | |
| ENST00000456970.6:c.3415C>T | ENSP00000405002.2:n.3415C>T | |
| ENST00000622290.4:c.*999C>T | ENSP00000483331.1:n.*999C>T | |
| NM_001171.5:c.3790C>T | NP_001162.4:p.Gln1264Ter | |
| XM_011522479.1:c.3757C>T | XP_011520781.1:p.Gln1253Ter | |
| XM_011522480.1:c.3448C>T | XP_011520782.1:p.Gln1150Ter | |
| XM_011522481.1:c.3448C>T | XP_011520783.1:p.Gln1150Ter | |
| XR_932836.1:n.4025C>T | ||
| XR_932837.1:n.3826C>T | ||
| XR_932838.1:n.3826C>T | ||
| XR_933134.1:n.539-2026G>A | ||
| NM_001351800.1:c.3448C>T | NP_001338729.1:p.Gln1150Ter | |
| NR_147784.1:n.3452C>T | ||
| XM_011522479.2:c.3757C>T | XP_011520781.1:p.Gln1253Ter | |
| XM_011522481.3:c.3448C>T | XP_011520783.1:p.Gln1150Ter | |
| XM_017023212.1:c.3622C>T | XP_016878701.1:p.Gln1208Ter | |
| XM_024450261.1:c.3826C>T | XP_024306029.1:p.Gln1276Ter | |
| XR_932836.2:n.3971C>T | ||
| XR_932837.3:n.3771C>T | ||
| XR_932838.3:n.3771C>T | ||
| NM_001171.6:c.3790C>T MANE Select | NP_001162.5:p.Gln1264Ter |