Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421893C>A , CM000671.2:g.101421893C>A | GRCh38 |
| NC_000009.11:g.104184175C>A , CM000671.1:g.104184175C>A | GRCh37 |
| NC_000009.10:g.103223996C>A | NCBI36 |
| NG_012387.1:g.18888G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.1011G>T MANE Select | ENSP00000497767.1:p.Gln337His | |
| ENST00000648064.1:c.1011G>T | ENSP00000497990.1:p.Gln337His | |
| ENST00000648758.1:c.1011G>T | ENSP00000497731.1:p.Gln337His | |
| ENST00000374855.8:c.1011G>T | ENSP00000363988.4:p.Gln337His | |
| ENST00000616752.1:c.*23G>T | ENSP00000481363.1:n.*23G>T | |
| NM_000035.3:c.1011G>T | NP_000026.2:p.Gln337His | |
| NM_000035.4:c.1011G>T MANE Select | NP_000026.2:p.Gln337His |