gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6779554T>G , CM000682.2:g.6779554T>G | GRCh38 |
| NC_000020.10:g.6760201T>G , CM000682.1:g.6760201T>G | GRCh37 |
| NC_000020.9:g.6708201T>G | NCBI36 |
| NG_023233.1:g.16457T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.*465T>G MANE Select | ENSP00000368104.3:n.*465T>G | |
| ENST00000378827.4:c.*465T>G | ENSP00000368104.3:n.*465T>G | |
| NM_001200.2:c.*465T>G | NP_001191.1:n.*465T>G | |
| XM_011529323.1:c.*465T>G | XP_011527625.1:n.*465T>G | |
| NM_001200.3:c.*465T>G | NP_001191.1:n.*465T>G | |
| NM_001200.4:c.*465T>G MANE Select | NP_001191.1:n.*465T>G |