Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750933G= , CM000681.2:g.48750933G= | GRCh38 |
| NC_000019.9:g.49254190G= , CM000681.1:g.49254190G= | GRCh37 |
| NC_000019.8:g.53946002G= | NCBI36 |
| NG_007510.1:g.9458C= | |
| NG_007510.2:g.9458C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645652.2:c.349C= MANE Select | ENSP00000494643.1:p.His117= | |
| ENST00000310160.7:c.349C= | ENSP00000312021.3:p.His117= | |
| NM_000148.3:c.349C= | NP_000139.1:p.His117= | |
| XM_006723127.1:c.718C= | XP_006723190.1:p.His240= | |
| NM_001329877.1:c.349C= | NP_001316806.1:p.His117= | |
| NM_000148.4:c.349C= | NP_000139.1:p.His117= | |
| NM_001384359.1:c.349C= MANE Select | NP_001371288.1:p.His117= |