Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206866A>C , CM000667.2:g.81206866A>C | GRCh38 |
| NC_000005.9:g.80502685A>C , CM000667.1:g.80502685A>C | GRCh37 |
| NC_000005.8:g.80538441A>C | NCBI36 |
| NG_030334.1:g.251178A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2928A>C MANE Select | ENSP00000265080.4:p.Gln976His | |
| ENST00000265080.8:c.2928A>C | ENSP00000265080.4:p.Gln976His | |
| ENST00000503795.1:c.2928A>C | ENSP00000421771.1:p.Gln976His | |
| NM_006909.2:c.2928A>C | NP_008840.1:p.Gln976His | |
| XM_017009682.2:c.2643A>C | XP_016865171.1:p.Gln881His | |
| XR_002956166.1:n.3044A>C | ||
| NM_006909.3:c.2928A>C MANE Select | NP_008840.1:p.Gln976His |