Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831331G>A , CM000681.2:g.35831331G>A | GRCh38 |
| NC_000019.9:g.36322233G>A , CM000681.1:g.36322233G>A | GRCh37 |
| NC_000019.8:g.41014073G>A | NCBI36 |
| NG_013356.2:g.42957C>T , LRG_693:g.42957C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3352C>T MANE Select | NP_004637.1:p.Gln1118Ter |
| ENST00000378910.10:c.3352C>T MANE Select | ENSP00000368190.4:p.Gln1118Ter |
| NM_004646.3:c.3352C>T , LRG_693t1:c.3352C>T | NP_004637.1:p.Gln1118Ter |
| ENST00000353632.6:c.3232C>T | ENSP00000343634.5:p.Gln1078Ter |
| ENST00000378910.9:c.3352C>T | ENSP00000368190.4:p.Gln1118Ter |