Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128289135C>T , CM000667.2:g.128289135C>T | GRCh38 |
| NC_000005.9:g.127624827C>T , CM000667.1:g.127624827C>T | GRCh37 |
| NC_000005.8:g.127652726C>T | NCBI36 |
| NG_008750.1:g.253909G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6629G>A MANE Select | NP_001990.2:p.Arg2210His |
| ENST00000262464.9:c.6629G>A MANE Select | ENSP00000262464.4:p.Arg2210His |
| NM_001999.3:c.6629G>A | NP_001990.2:p.Arg2210His |
| ENST00000262464.8:c.6629G>A | ENSP00000262464.4:p.Arg2210His |
| ENST00000508053.5:c.6629G>A | ENSP00000424571.1:p.Arg2210His |
| ENST00000619499.4:c.6626G>A | ENSP00000482132.1:p.Arg2209His |
| ENST00000703783.1:n.3413G>A | |
| ENST00000703785.1:n.3332G>A | |
| XM_017009228.2:c.6476G>A | XP_016864717.1:p.Arg2159His |