Linked Data
gnomAD v4:
20-6770139-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770139A>G , CM000682.2:g.6770139A>G | GRCh38 |
| NC_000020.10:g.6750786A>G , CM000682.1:g.6750786A>G | GRCh37 |
| NC_000020.9:g.6698786A>G | NCBI36 |
| NG_023233.1:g.7042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.13A>G MANE Select | ENSP00000368104.3:p.Thr5Ala | |
| ENST00000378827.4:c.13A>G | ENSP00000368104.3:p.Thr5Ala | |
| NM_001200.2:c.13A>G | NP_001191.1:p.Thr5Ala | |
| XM_011529323.1:c.-123+1264A>G | XP_011527625.1:n.-123+1264A>G | |
| NM_001200.3:c.13A>G | NP_001191.1:p.Thr5Ala | |
| NM_001200.4:c.13A>G MANE Select | NP_001191.1:p.Thr5Ala |