Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255644T= , CM000671.2:g.133255644T= | GRCh38 |
| NC_000009.11:g.136131031T= , CM000671.1:g.136131031T= | GRCh37 |
| NC_000009.10:g.135120852T= | NCBI36 |
| NG_006669.1:g.22024A= | |
| NG_006669.2:g.24572A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1116A= | ||
| ENST00000647353.1:n.54-4492A= | ||
| ENST00000679909.1:c.28+19518A= | ENSP00000506089.1:n.28+19518A= | |
| ENST00000453660.3:n.1098A= | ||
| ENST00000538324.2:c.1080A= | ENSP00000483018.1:p.Gly360= | |
| ENST00000611156.4:c.*22A= | ENSP00000483265.1:n.*22A= | |
| NM_020469.2:c.*22A= | NP_065202.2:n.*22A= | |
| NM_020469.3:c.*22A= | NP_065202.2:n.*22A= |