Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344498C>T , CM000667.2:g.128344498C>T | GRCh38 |
| NC_000005.9:g.127680190C>T , CM000667.1:g.127680190C>T | GRCh37 |
| NC_000005.8:g.127708089C>T | NCBI36 |
| NG_008750.1:g.198546G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.3230G>A MANE Select | NP_001990.2:p.Cys1077Tyr |
| ENST00000262464.9:c.3230G>A MANE Select | ENSP00000262464.4:p.Cys1077Tyr |
| NM_001999.3:c.3230G>A | NP_001990.2:p.Cys1077Tyr |
| ENST00000262464.8:c.3230G>A | ENSP00000262464.4:p.Cys1077Tyr |
| ENST00000508053.5:c.3230G>A | ENSP00000424571.1:p.Cys1077Tyr |
| ENST00000508989.5:c.3131G>A | ENSP00000425596.1:p.Cys1044Tyr |
| ENST00000619499.4:c.3227G>A | ENSP00000482132.1:p.Cys1076Tyr |
| XM_017009228.2:c.3077G>A | XP_016864717.1:p.Cys1026Tyr |