Linked Data
ClinVar Variation Id:
6570
dbSNP Id:
rs2238472
ExAC:
16:16251599 C / T
gnomAD v2:
16-16251599-C-T
gnomAD v3:
16-16157742-C-T
gnomAD v4:
16-16157742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157742C>T , CM000678.2:g.16157742C>T | GRCh38 |
| NC_000016.9:g.16251599C>T , CM000678.1:g.16251599C>T | GRCh37 |
| NC_000016.8:g.16159100C>T | NCBI36 |
| NG_007558.2:g.70730G>A | |
| NG_007558.3:g.70876G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3803G>A | ENSP00000483331.2:p.Arg1268Gln | |
| ENST00000205557.12:c.3803G>A MANE Select | ENSP00000205557.7:p.Arg1268Gln | |
| ENST00000640696.1:c.617G>A | ENSP00000492197.1:p.Arg206Gln | |
| ENST00000205557.11:c.3803G>A | ENSP00000205557.7:p.Arg1268Gln | |
| ENST00000456970.6:c.3428G>A | ENSP00000405002.2:n.3428G>A | |
| ENST00000622290.4:c.*1012G>A | ENSP00000483331.1:n.*1012G>A | |
| NM_001171.5:c.3803G>A | NP_001162.4:p.Arg1268Gln | |
| XM_011522479.1:c.3770G>A | XP_011520781.1:p.Arg1257Gln | |
| XM_011522480.1:c.3461G>A | XP_011520782.1:p.Arg1154Gln | |
| XM_011522481.1:c.3461G>A | XP_011520783.1:p.Arg1154Gln | |
| XR_932836.1:n.4038G>A | ||
| XR_932837.1:n.3839G>A | ||
| XR_932838.1:n.3839G>A | ||
| XR_933134.1:n.539-2039C>T | ||
| NM_001351800.1:c.3461G>A | NP_001338729.1:p.Arg1154Gln | |
| NR_147784.1:n.3465G>A | ||
| XM_011522479.2:c.3770G>A | XP_011520781.1:p.Arg1257Gln | |
| XM_011522481.3:c.3461G>A | XP_011520783.1:p.Arg1154Gln | |
| XM_017023212.1:c.3635G>A | XP_016878701.1:p.Arg1212Gln | |
| XM_024450261.1:c.3839G>A | XP_024306029.1:p.Arg1280Gln | |
| XR_932836.2:n.3984G>A | ||
| XR_932837.3:n.3784G>A | ||
| XR_932838.3:n.3784G>A | ||
| NM_001171.6:c.3803G>A MANE Select | NP_001162.5:p.Arg1268Gln |