Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26727962C>T , CM000664.2:g.26727962C>T | GRCh38 |
| NC_000002.11:g.26950830C>T , CM000664.1:g.26950830C>T | GRCh37 |
| NC_000002.10:g.26804334C>T | NCBI36 |
| NG_033884.1:g.40250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.579C>T MANE Select | ENSP00000306275.3:p.Cys193= | |
| ENST00000302909.3:c.579C>T | ENSP00000306275.3:p.Cys193= | |
| ENST00000620977.1:c.210C>T | ENSP00000483136.1:p.Cys70= | |
| NM_002246.2:c.579C>T | NP_002237.1:p.Cys193= | |
| XM_005264293.1:c.249C>T | XP_005264350.1:p.Cys83= | |
| XM_005264293.2:c.249C>T | XP_005264350.1:p.Cys83= | |
| NM_002246.3:c.579C>T MANE Select | NP_002237.1:p.Cys193= |