Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134486463A>G , CM000685.2:g.134486463A>G | GRCh38 |
| NC_000023.10:g.133620493A>G , CM000685.1:g.133620493A>G | GRCh37 |
| NC_000023.9:g.133448159A>G | NCBI36 |
| NG_012329.1:g.31319A>G | |
| NG_012329.2:g.31319A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.319-2A>G MANE Select | NP_000185.1:n.319-2A>G |
| ENST00000298556.8:c.319-2A>G MANE Select | ENSP00000298556.7:n.319-2A>G |
| NM_000194.2:c.319-2A>G | NP_000185.1:n.319-2A>G |
| ENST00000298556.7:c.319-2A>G | ENSP00000298556.7:n.319-2A>G |
| ENST00000462974.5:n.477-2A>G | |
| ENST00000475720.1:n.277-2A>G | |
| XM_011531328.1:c.337-2A>G | XP_011529630.1:n.337-2A>G |