Linked Data
ClinVar Variation Id:
318907
dbSNP Id:
rs140675498
ExAC:
16:30750037 T / G
gnomAD v2:
16-30750037-T-G
gnomAD v3:
16-30738716-T-G
gnomAD v4:
16-30738716-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30738716T>G , CM000678.2:g.30738716T>G | GRCh38 |
| NC_000016.9:g.30750037T>G , CM000678.1:g.30750037T>G | GRCh37 |
| NC_000016.8:g.30657538T>G | NCBI36 |
| NG_032135.1:g.44576T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.8676T>G | ENSP00000405186.3:p.Ala2892= | |
| ENST00000704023.1:c.1758+761T>G | ||
| ENST00000706321.1:c.8676T>G | ENSP00000516346.1:p.Ala2892= | |
| ENST00000262518.9:c.8676T>G MANE Select | ENSP00000262518.4:p.Ala2892= | |
| ENST00000262518.8:c.8676T>G | ENSP00000262518.4:p.Ala2892= | |
| ENST00000380361.7:c.8145T>G | ENSP00000369719.3:p.Ala2715= | |
| ENST00000395059.6:c.7899T>G | ENSP00000378499.3:p.Ala2633= | |
| NM_006662.2:c.8676T>G | NP_006653.2:p.Ala2892= | |
| NM_006662.3:c.8676T>G MANE Select | NP_006653.2:p.Ala2892= |