dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7677916T>A , CM000681.2:g.7677916T>A | GRCh38 |
| NC_000019.9:g.7742802T>A , CM000681.1:g.7742802T>A | GRCh37 |
| NC_000019.8:g.7648802T>A | NCBI36 |
| NG_055288.1:g.2096T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333598.8:c.146-188T>A MANE Select | ENSP00000329920.3:n.146-188T>A | |
| ENST00000333598.7:c.185-188T>A | ENSP00000329920.2:n.185-188T>A | |
| ENST00000597445.1:c.56-188T>A | ENSP00000471413.1:n.56-188T>A | |
| NM_174918.2:c.185-188T>A | NP_777578.2:n.185-188T>A | |
| NM_174918.3:c.146-188T>A MANE Select | NP_777578.3:n.146-188T>A |