Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119072916C>T , CM000672.2:g.119072916C>T | GRCh38 |
| NC_000010.10:g.120832428C>T , CM000672.1:g.120832428C>T | GRCh37 |
| NC_000010.9:g.120822418C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.515G>A MANE Select | ENSP00000358140.3:p.Arg172His | |
| ENST00000369144.7:c.515G>A | ENSP00000358140.3:p.Arg172His | |
| ENST00000541549.2:c.515G>A | ENSP00000438178.2:p.Arg172His | |
| NM_003750.2:c.515G>A | NP_003741.1:p.Arg172His | |
| NM_003750.3:c.515G>A | NP_003741.1:p.Arg172His | |
| NM_003750.4:c.515G>A MANE Select | NP_003741.1:p.Arg172His |