Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31577614A>C , CM000668.2:g.31577614A>C | GRCh38 |
| NC_000006.11:g.31545391A>C , CM000668.1:g.31545391A>C | GRCh37 |
| NC_000006.10:g.31653370A>C | NCBI36 |
| NG_007462.1:g.7042A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000594.4:c.*77A>C MANE Select | NP_000585.2:n.*77A>C |
| ENST00000449264.3:c.*77A>C MANE Select | ENSP00000398698.2:n.*77A>C |
| NM_000594.3:c.*77A>C | NP_000585.2:n.*77A>C |
| ENST00000449264.2:c.*77A>C | ENSP00000398698.2:n.*77A>C |