Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844451C>A , CM000681.2:g.35844451C>A | GRCh38 |
| NC_000019.9:g.36335353C>A , CM000681.1:g.36335353C>A | GRCh37 |
| NC_000019.8:g.41027193C>A | NCBI36 |
| NG_013356.2:g.29837G>T , LRG_693:g.29837G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1939G>T MANE Select | NP_004637.1:p.Glu647Ter |
| ENST00000378910.10:c.1939G>T MANE Select | ENSP00000368190.4:p.Glu647Ter |
| NM_004646.3:c.1939G>T , LRG_693t1:c.1939G>T | NP_004637.1:p.Glu647Ter |
| ENST00000353632.6:c.1939G>T | ENSP00000343634.5:p.Glu647Ter |
| ENST00000378910.9:c.1939G>T | ENSP00000368190.4:p.Glu647Ter |
| ENST00000585400.1:n.121G>T |