Linked Data
dbSNP Id:
rs766753855
ExAC:
19:16008232 G / A
gnomAD v2:
19-16008232-G-A
gnomAD v3:
19-15897422-G-A
gnomAD v4:
19-15897422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897422G>A , CM000681.2:g.15897422G>A | GRCh38 |
| NC_000019.9:g.16008232G>A , CM000681.1:g.16008232G>A | GRCh37 |
| NC_000019.8:g.15869232G>A | NCBI36 |
| NG_007971.2:g.5653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.190C>T MANE Select | ENSP00000221700.3:p.Gln64Ter | |
| ENST00000011989.11:c.190C>T | ENSP00000011989.8:p.Gln64Ter | |
| ENST00000221700.10:c.190C>T | ENSP00000221700.3:p.Gln64Ter | |
| ENST00000392846.7:n.49+604C>T | ||
| ENST00000586927.2:c.190C>T | ENSP00000465514.1:p.Gln64Ter | |
| ENST00000587671.2:c.190C>T | ENSP00000467443.2:p.Gln64Ter | |
| ENST00000608168.1:n.243C>T | ||
| NM_001082.4:c.190C>T | NP_001073.3:p.Gln64Ter | |
| NM_001082.5:c.190C>T MANE Select | NP_001073.3:p.Gln64Ter |