Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831654C>T , CM000681.2:g.35831654C>T | GRCh38 |
| NC_000019.9:g.36322556C>T , CM000681.1:g.36322556C>T | GRCh37 |
| NC_000019.8:g.41014396C>T | NCBI36 |
| NG_013356.2:g.42634G>A , LRG_693:g.42634G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3275G>A MANE Select | NP_004637.1:p.Arg1092His |
| ENST00000378910.10:c.3275G>A MANE Select | ENSP00000368190.4:p.Arg1092His |
| NM_004646.3:c.3275G>A , LRG_693t1:c.3275G>A | NP_004637.1:p.Arg1092His |
| ENST00000353632.6:c.3167-154G>A | ENSP00000343634.5:n.3167-154G>A |
| ENST00000378910.9:c.3275G>A | ENSP00000368190.4:p.Arg1092His |