Linked Data
ClinVar Variation Id:
433490
ClinVar RCV Id:
RCV000499027
dbSNP Id:
rs1555507925
gnomAD v4:
16-16157768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157768C>T , CM000678.2:g.16157768C>T | GRCh38 |
| NC_000016.9:g.16251625C>T , CM000678.1:g.16251625C>T | GRCh37 |
| NC_000016.8:g.16159126C>T | NCBI36 |
| NG_007558.2:g.70704G>A | |
| NG_007558.3:g.70850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3777G>A | ENSP00000483331.2:p.Trp1259Ter | |
| ENST00000205557.12:c.3777G>A MANE Select | ENSP00000205557.7:p.Trp1259Ter | |
| ENST00000640696.1:c.591G>A | ENSP00000492197.1:p.Trp197Ter | |
| ENST00000205557.11:c.3777G>A | ENSP00000205557.7:p.Trp1259Ter | |
| ENST00000456970.6:c.3402G>A | ENSP00000405002.2:n.3402G>A | |
| ENST00000622290.4:c.*986G>A | ENSP00000483331.1:n.*986G>A | |
| NM_001171.5:c.3777G>A | NP_001162.4:p.Trp1259Ter | |
| XM_011522479.1:c.3744G>A | XP_011520781.1:p.Trp1248Ter | |
| XM_011522480.1:c.3435G>A | XP_011520782.1:p.Trp1145Ter | |
| XM_011522481.1:c.3435G>A | XP_011520783.1:p.Trp1145Ter | |
| XR_932836.1:n.4012G>A | ||
| XR_932837.1:n.3813G>A | ||
| XR_932838.1:n.3813G>A | ||
| XR_933134.1:n.539-2013C>T | ||
| NM_001351800.1:c.3435G>A | NP_001338729.1:p.Trp1145Ter | |
| NR_147784.1:n.3439G>A | ||
| XM_011522479.2:c.3744G>A | XP_011520781.1:p.Trp1248Ter | |
| XM_011522481.3:c.3435G>A | XP_011520783.1:p.Trp1145Ter | |
| XM_017023212.1:c.3609G>A | XP_016878701.1:p.Trp1203Ter | |
| XM_024450261.1:c.3813G>A | XP_024306029.1:p.Trp1271Ter | |
| XR_932836.2:n.3958G>A | ||
| XR_932837.3:n.3758G>A | ||
| XR_932838.3:n.3758G>A | ||
| NM_001171.6:c.3777G>A MANE Select | NP_001162.5:p.Trp1259Ter |