Linked Data
dbSNP Id:
rs762992681
ExAC:
19:18896940 G / A
gnomAD v2:
19-18896940-G-A
gnomAD v4:
19-18786130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786130G>A , CM000681.2:g.18786130G>A | GRCh38 |
| NC_000019.9:g.18896940G>A , CM000681.1:g.18896940G>A | GRCh37 |
| NC_000019.8:g.18757940G>A | NCBI36 |
| NG_007070.1:g.10175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1324C>T MANE Select | ENSP00000222271.2:p.Gln442Ter | |
| ENST00000222271.6:c.1324C>T | ENSP00000222271.2:p.Gln442Ter | |
| ENST00000425807.1:c.1165C>T | ENSP00000403792.1:p.Gln389Ter | |
| ENST00000542601.6:c.1225C>T | ENSP00000439156.2:p.Gln409Ter | |
| ENST00000612179.1:n.574C>T | ||
| NM_000095.2:c.1324C>T | NP_000086.2:p.Gln442Ter | |
| NM_000095.3:c.1324C>T MANE Select | NP_000086.2:p.Gln442Ter |