Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259657C>T , CM000667.2:g.128259657C>T | GRCh38 |
| NC_000005.9:g.127595349C>T , CM000667.1:g.127595349C>T | GRCh37 |
| NC_000005.8:g.127623248C>T | NCBI36 |
| NG_008750.1:g.283387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8537G>A MANE Select | ENSP00000262464.4:p.Arg2846His | |
| ENST00000262464.8:c.8537G>A | ENSP00000262464.4:p.Arg2846His | |
| ENST00000508053.5:c.8537G>A | ENSP00000424571.1:p.Arg2846His | |
| ENST00000619499.4:c.8534G>A | ENSP00000482132.1:p.Arg2845His | |
| NM_001999.3:c.8537G>A | NP_001990.2:p.Arg2846His | |
| XM_017009228.2:c.8384G>A | XP_016864717.1:p.Arg2795His | |
| NM_001999.4:c.8537G>A MANE Select | NP_001990.2:p.Arg2846His |