Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430710G= , CM000677.2:g.48430710G= | GRCh38 |
| NC_000015.9:g.48722907G= , CM000677.1:g.48722907G= | GRCh37 |
| NC_000015.8:g.46510199G= | NCBI36 |
| NG_008805.2:g.220079C= , LRG_778:g.220079C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6832C= | ENSP00000453958.2:p.Pro2278= | |
| ENST00000674301.2:c.*283C= | ENSP00000501333.2:n.*283C= | |
| ENST00000682170.1:n.441C= | ||
| ENST00000316623.10:c.6832C= MANE Select | ENSP00000325527.5:p.Pro2278= | |
| ENST00000674301.1:c.1936C= | ENSP00000501333.1:n.1936C= | |
| ENST00000316623.9:c.6832C= | ENSP00000325527.5:p.Pro2278= | |
| ENST00000559133.5:c.2139C= | ||
| ENST00000560720.1:n.119C= | ||
| NM_000138.4:c.6832C= , LRG_778t1:c.6832C= | NP_000129.3:p.Pro2278= | |
| NM_000138.5:c.6832C= MANE Select | NP_000129.3:p.Pro2278= |