Linked Data
ClinVar Variation Id:
433487
ClinVar RCV Id:
RCV000499032
dbSNP Id:
rs766105758
gnomAD v4:
16-16154938-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154938C>A , CM000678.2:g.16154938C>A | GRCh38 |
| NC_000016.9:g.16248795C>A , CM000678.1:g.16248795C>A | GRCh37 |
| NC_000016.8:g.16156296C>A | NCBI36 |
| NG_007558.2:g.73534G>T | |
| NG_007558.3:g.73680G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.839G>T | ||
| ENST00000622290.5:c.*148G>T | ENSP00000483331.2:n.*148G>T | |
| ENST00000205557.12:c.3976G>T MANE Select | ENSP00000205557.7:p.Asp1326Tyr | |
| ENST00000640696.1:c.790G>T | ENSP00000492197.1:p.Asp264Tyr | |
| ENST00000205557.11:c.3976G>T | ENSP00000205557.7:p.Asp1326Tyr | |
| ENST00000456970.6:c.3601G>T | ENSP00000405002.2:n.3601G>T | |
| ENST00000576204.5:n.839G>T | ||
| ENST00000622290.4:c.*1185G>T | ENSP00000483331.1:n.*1185G>T | |
| NM_001171.5:c.3976G>T | NP_001162.4:p.Asp1326Tyr | |
| XM_011522479.1:c.3943G>T | XP_011520781.1:p.Asp1315Tyr | |
| XM_011522480.1:c.3634G>T | XP_011520782.1:p.Asp1212Tyr | |
| XM_011522481.1:c.3634G>T | XP_011520783.1:p.Asp1212Tyr | |
| XR_933134.1:n.539-4843C>A | ||
| NM_001351800.1:c.3634G>T | NP_001338729.1:p.Asp1212Tyr | |
| NR_147784.1:n.3638G>T | ||
| XM_011522479.2:c.3943G>T | XP_011520781.1:p.Asp1315Tyr | |
| XM_011522481.3:c.3634G>T | XP_011520783.1:p.Asp1212Tyr | |
| XM_017023212.1:c.3808G>T | XP_016878701.1:p.Asp1270Tyr | |
| XM_024450261.1:c.4012G>T | XP_024306029.1:p.Asp1338Tyr | |
| NM_001171.6:c.3976G>T MANE Select | NP_001162.5:p.Asp1326Tyr |