Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750557A>T , CM000681.2:g.48750557A>T | GRCh38 |
| NC_000019.9:g.49253814A>T , CM000681.1:g.49253814A>T | GRCh37 |
| NC_000019.8:g.53945626A>T | NCBI36 |
| NG_007510.1:g.9834T>A | |
| NG_007510.2:g.9834T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384359.1:c.725T>A MANE Select | NP_001371288.1:p.Leu242His |
| ENST00000645652.2:c.725T>A MANE Select | ENSP00000494643.1:p.Leu242His |
| NM_000148.3:c.725T>A | NP_000139.1:p.Leu242His |
| NM_000148.4:c.725T>A | NP_000139.1:p.Leu242His |
| NM_001329877.1:c.725T>A | NP_001316806.1:p.Leu242His |
| ENST00000310160.7:c.725T>A | ENSP00000312021.3:p.Leu242His |
| XM_006723127.1:c.1094T>A | XP_006723190.1:p.Leu365His |