Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214283666T= , CM000663.2:g.214283666T= | GRCh38 |
| NC_000001.10:g.214457009T= , CM000663.1:g.214457009T= | GRCh37 |
| NC_000001.9:g.212523632T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366957.10:c.173+2239T= MANE Select | ENSP00000355924.5:n.173+2239T= | |
| ENST00000366957.9:c.173+2239T= | ENSP00000355924.5:n.173+2239T= | |
| ENST00000460580.5:n.206+2239T= | ||
| ENST00000471645.5:n.303+2239T= | ||
| ENST00000491455.5:n.326+2239T= | ||
| NM_020197.2:c.173+2239T= | NP_064582.2:n.173+2239T= | |
| XR_426790.2:n.176+2239T= | ||
| XR_426790.4:n.176+2239T= | ||
| NM_020197.3:c.173+2239T= MANE Select | NP_064582.2:n.173+2239T= |