Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232974691C>T , CM000664.2:g.232974691C>T | GRCh38 |
| NC_000002.11:g.233839401C>T , CM000664.1:g.233839401C>T | GRCh37 |
| NC_000002.10:g.233547645C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264051.8:c.200G>A MANE Select | ENSP00000264051.3:p.Arg67His | |
| ENST00000264051.7:c.200G>A | ENSP00000264051.3:p.Arg67His | |
| ENST00000414326.1:c.106G>A | ||
| NM_019850.2:c.200G>A | NP_062824.2:p.Arg67His | |
| XM_011510923.1:c.200G>A | XP_011509225.1:p.Arg67His | |
| XM_011510923.3:c.200G>A | XP_011509225.1:p.Arg67His | |
| NM_019850.3:c.200G>A MANE Select | NP_062824.2:p.Arg67His |