Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134493591G>A , CM000685.2:g.134493591G>A | GRCh38 |
| NC_000023.10:g.133627621G>A , CM000685.1:g.133627621G>A | GRCh37 |
| NC_000023.9:g.133455287G>A | NCBI36 |
| NG_012329.1:g.38447G>A | |
| NG_012329.2:g.38447G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.485+1G>A MANE Select | NP_000185.1:n.485+1G>A |
| ENST00000298556.8:c.485+1G>A MANE Select | ENSP00000298556.7:n.485+1G>A |
| NM_000194.2:c.485+1G>A | NP_000185.1:n.485+1G>A |
| ENST00000298556.7:c.485+1G>A | ENSP00000298556.7:n.485+1G>A |
| ENST00000462974.5:n.643+1G>A | |
| ENST00000475720.1:n.443+1G>A | |
| XM_011531328.1:c.503+1G>A | XP_011529630.1:n.503+1G>A |