Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213492T>C , CM000667.2:g.1213492T>C | GRCh38 |
| NC_000005.9:g.1213607T>C , CM000667.1:g.1213607T>C | GRCh37 |
| NC_000005.8:g.1266607T>C | NCBI36 |
| NG_008282.1:g.16898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.693T>C MANE Select | ENSP00000305302.10:p.Tyr231= | |
| ENST00000304460.10:c.693T>C | ENSP00000305302.10:p.Tyr231= | |
| ENST00000515652.5:c.601T>C | ENSP00000425701.1:p.Cys201Arg | |
| NM_001003841.2:c.693T>C | NP_001003841.1:p.Tyr231= | |
| NM_001003841.3:c.693T>C MANE Select | NP_001003841.1:p.Tyr231= |