Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214456G>T , CM000681.2:g.9214456G>T | GRCh38 |
| NC_000019.9:g.9325132G>T , CM000681.1:g.9325132G>T | GRCh37 |
| NC_000019.8:g.9186132G>T | NCBI36 |
| NG_027953.1:g.5416C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.382C>A | ENSP00000493404.1:p.His128Asn | |
| ENST00000641669.1:c.382C>A MANE Select | ENSP00000493383.1:p.His128Asn | |
| ENST00000308682.3:c.382C>A | ENSP00000310488.2:p.His128Asn | |
| NM_001005191.2:c.382C>A | NP_001005191.1:p.His128Asn | |
| NM_001005191.3:c.382C>A MANE Select | NP_001005191.1:p.His128Asn |