Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255486A= , CM000671.2:g.133255486A= | GRCh38 |
| NC_000009.11:g.136130873A= , CM000671.1:g.136130873A= | GRCh37 |
| NC_000009.10:g.135120694A= | NCBI36 |
| NG_006669.1:g.22182T= | |
| NG_006669.2:g.24730T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1274T= | ||
| ENST00000647353.1:n.54-4334T= | ||
| ENST00000679909.1:c.28+19676T= | ENSP00000506089.1:n.28+19676T= | |
| ENST00000453660.3:n.1256T= | ||
| ENST00000611156.4:c.*180T= | ENSP00000483265.1:n.*180T= | |
| NM_020469.2:c.*180T= | NP_065202.2:n.*180T= | |
| NM_020469.3:c.*180T= | NP_065202.2:n.*180T= |