Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893217T>C , CM000664.2:g.218893217T>C | GRCh38 |
| NC_000002.11:g.219757939T>C , CM000664.1:g.219757939T>C | GRCh37 |
| NC_000002.10:g.219466183T>C | NCBI36 |
| NG_012179.1:g.17685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1200T>C MANE Select | ENSP00000258411.3:p.Cys400= | |
| ENST00000258411.7:c.1200T>C | ENSP00000258411.3:p.Cys400= | |
| NM_025216.2:c.1200T>C | NP_079492.2:p.Cys400= | |
| XM_011511928.1:c.1149T>C | XP_011510230.1:p.Cys383= | |
| XM_011511929.1:c.1104T>C | XP_011510231.1:p.Cys368= | |
| XM_011511930.1:c.820T>C | XP_011510232.1:p.Phe274Leu | |
| XM_011511929.2:c.1104T>C | XP_011510231.1:p.Cys368= | |
| NM_025216.3:c.1200T>C MANE Select | NP_079492.2:p.Cys400= |