Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831319C>A , CM000681.2:g.35831319C>A | GRCh38 |
| NC_000019.9:g.36322221C>A , CM000681.1:g.36322221C>A | GRCh37 |
| NC_000019.8:g.41014061C>A | NCBI36 |
| NG_013356.2:g.42969G>T , LRG_693:g.42969G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3364G>T MANE Select | NP_004637.1:p.Glu1122Ter |
| ENST00000378910.10:c.3364G>T MANE Select | ENSP00000368190.4:p.Glu1122Ter |
| NM_004646.3:c.3364G>T , LRG_693t1:c.3364G>T | NP_004637.1:p.Glu1122Ter |
| ENST00000353632.6:c.3244G>T | ENSP00000343634.5:p.Glu1082Ter |
| ENST00000378910.9:c.3364G>T | ENSP00000368190.4:p.Glu1122Ter |