dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19268740C>A , CM000681.2:g.19268740C>A | GRCh38 |
| NC_000019.9:g.19379549C>A , CM000681.1:g.19379549C>A | GRCh37 |
| NC_000019.8:g.19240549C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389363.5:c.499G>T MANE Select | ENSP00000374014.2:p.Glu167Ter | |
| ENST00000389363.4:c.499G>T | ENSP00000374014.2:p.Glu167Ter | |
| ENST00000431465.2:n.1006-653G>T | ||
| ENST00000586107.1:n.473G>T | ||
| ENST00000591001.5:n.944-653G>T | ||
| NM_001001524.2:c.499G>T | NP_001001524.2:p.Glu167Ter | |
| NM_001001524.3:c.499G>T MANE Select | NP_001001524.2:p.Glu167Ter |