Linked Data
dbSNP Id:
rs748356558
ExAC:
20:6758927 A / G
gnomAD v2:
20-6758927-A-G
gnomAD v4:
20-6778280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778280A>G , CM000682.2:g.6778280A>G | GRCh38 |
| NC_000020.10:g.6758927A>G , CM000682.1:g.6758927A>G | GRCh37 |
| NC_000020.9:g.6706927A>G | NCBI36 |
| NG_023233.1:g.15183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.382A>G MANE Select | ENSP00000368104.3:p.Thr128Ala | |
| ENST00000378827.4:c.382A>G | ENSP00000368104.3:p.Thr128Ala | |
| NM_001200.2:c.382A>G | NP_001191.1:p.Thr128Ala | |
| XM_011529323.1:c.-87A>G | XP_011527625.1:n.-87A>G | |
| NM_001200.3:c.382A>G | NP_001191.1:p.Thr128Ala | |
| NM_001200.4:c.382A>G MANE Select | NP_001191.1:p.Thr128Ala |