Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128258344G>T , CM000667.2:g.128258344G>T | GRCh38 |
| NC_000005.9:g.127594036G>T , CM000667.1:g.127594036G>T | GRCh37 |
| NC_000005.8:g.127621935G>T | NCBI36 |
| NG_008750.1:g.284700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.*1111C>A MANE Select | ENSP00000262464.4:n.*1111C>A | |
| ENST00000262464.8:c.*1111C>A | ENSP00000262464.4:n.*1111C>A | |
| ENST00000508053.5:c.*1111C>A | ENSP00000424571.1:n.*1111C>A | |
| ENST00000619499.4:c.9847C>A | ENSP00000482132.1:n.9847C>A | |
| NM_001999.3:c.*1111C>A | NP_001990.2:n.*1111C>A | |
| NM_001999.4:c.*1111C>A MANE Select | NP_001990.2:n.*1111C>A |