gnomAD v2:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420915C>T , CM000664.2:g.219420915C>T | GRCh38 |
| NC_000002.11:g.220285637C>T , CM000664.1:g.220285637C>T | GRCh37 |
| NC_000002.10:g.219993881C>T | NCBI36 |
| NG_008043.1:g.7539C>T , LRG_380:g.7539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.459C>T | ||
| ENST00000683013.1:n.373C>T | ||
| ENST00000373960.4:c.985C>T MANE Select | ENSP00000363071.3:p.Gln329Ter | |
| ENST00000373960.3:c.985C>T | ENSP00000363071.3:p.Gln329Ter | |
| ENST00000477226.5:n.457C>T | ||
| ENST00000492726.1:n.380C>T | ||
| NM_001927.3:c.985C>T , LRG_380t1:c.985C>T | NP_001918.3:p.Gln329Ter | |
| NM_001927.4:c.985C>T MANE Select | NP_001918.3:p.Gln329Ter | |
| NM_001382708.1:c.982C>T | NP_001369637.1:p.Gln328Ter | |
| NM_001382709.1:c.736-569C>T | NP_001369638.1:n.736-569C>T | |
| NM_001382710.1:c.985C>T | NP_001369639.1:p.Gln329Ter | |
| NM_001382711.1:c.985C>T | NP_001369640.1:p.Gln329Ter | |
| NM_001382712.1:c.985C>T | NP_001369641.1:p.Gln329Ter | |
| NM_001382713.1:c.715C>T | NP_001369642.1:p.Gln239Ter |