Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40934951T>C , CM000677.2:g.40934951T>C | GRCh38 |
| NC_000015.9:g.41227149T>C , CM000677.1:g.41227149T>C | GRCh37 |
| NC_000015.8:g.39014441T>C | NCBI36 |
| NG_046974.1:g.10619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.1074T>C MANE Select | ENSP00000249749.5:p.His358= | |
| ENST00000249749.6:c.1074T>C | ENSP00000249749.5:p.His358= | |
| NM_019074.3:c.1074T>C | NP_061947.1:p.His358= | |
| NM_019074.4:c.1074T>C MANE Select | NP_061947.1:p.His358= |