Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669934G>C , CM000672.2:g.119669934G>C | GRCh38 |
| NC_000010.10:g.121429446G>C , CM000672.1:g.121429446G>C | GRCh37 |
| NC_000010.9:g.121419436G>C | NCBI36 |
| NG_016125.1:g.23565G>C , LRG_742:g.23565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.264G>C MANE Select | ENSP00000358081.4:p.Gln88His | |
| ENST00000369085.7:c.264G>C | ENSP00000358081.3:p.Gln88His | |
| ENST00000450186.1:c.90G>C | ENSP00000410036.1:p.Gln30His | |
| NM_004281.3:c.264G>C , LRG_742t1:c.264G>C | NP_004272.2:p.Gln88His | |
| XM_005270287.1:c.264G>C | XP_005270344.1:p.Gln88His | |
| XM_005270287.2:c.264G>C | XP_005270344.1:p.Gln88His | |
| NM_004281.4:c.264G>C MANE Select | NP_004272.2:p.Gln88His |