Linked Data
ClinVar Variation Id:
433356
dbSNP Id:
rs63751262
ExAC:
16:16244585 C / T
gnomAD v2:
16-16244585-C-T
gnomAD v3:
16-16150728-C-T
gnomAD v4:
16-16150728-C-T
PubMed:
PMID:16086762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150728C>T , CM000678.2:g.16150728C>T | GRCh38 |
| NC_000016.9:g.16244585C>T , CM000678.1:g.16244585C>T | GRCh37 |
| NC_000016.8:g.16152086C>T | NCBI36 |
| NG_007558.2:g.77744G>A | |
| NG_007558.3:g.77890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*425G>A | ENSP00000483331.2:n.*425G>A | |
| ENST00000205557.12:c.4253G>A MANE Select | ENSP00000205557.7:p.Arg1418Gln | |
| ENST00000640696.1:c.1067G>A | ENSP00000492197.1:p.Arg356Gln | |
| ENST00000205557.11:c.4253G>A | ENSP00000205557.7:p.Arg1418Gln | |
| ENST00000456970.6:c.3878G>A | ENSP00000405002.2:n.3878G>A | |
| ENST00000576204.5:n.1116G>A | ||
| ENST00000622290.4:c.*1462G>A | ENSP00000483331.1:n.*1462G>A | |
| NM_001171.5:c.4253G>A | NP_001162.4:p.Arg1418Gln | |
| XM_011522479.1:c.4220G>A | XP_011520781.1:p.Arg1407Gln | |
| XM_011522480.1:c.3911G>A | XP_011520782.1:p.Arg1304Gln | |
| XM_011522481.1:c.3911G>A | XP_011520783.1:p.Arg1304Gln | |
| XR_933134.1:n.538+6438C>T | ||
| NM_001351800.1:c.3911G>A | NP_001338729.1:p.Arg1304Gln | |
| NR_147784.1:n.3915G>A | ||
| XM_011522479.2:c.4220G>A | XP_011520781.1:p.Arg1407Gln | |
| XM_011522481.3:c.3911G>A | XP_011520783.1:p.Arg1304Gln | |
| XM_017023212.1:c.4085G>A | XP_016878701.1:p.Arg1362Gln | |
| XM_024450261.1:c.4289G>A | XP_024306029.1:p.Arg1430Gln | |
| NM_001171.6:c.4253G>A MANE Select | NP_001162.5:p.Arg1418Gln |