Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087030A>C , CM000668.2:g.33087030A>C | GRCh38 |
| NC_000006.11:g.33054807A>C , CM000668.1:g.33054807A>C | GRCh37 |
| NC_000006.10:g.33162785A>C | NCBI36 |
| NG_033242.1:g.16105A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002121.6:c.*496A>C MANE Select | NP_002112.3:n.*496A>C |
| ENST00000418931.7:c.*496A>C MANE Select | ENSP00000408146.2:n.*496A>C |
| NM_002121.5:c.*496A>C | NP_002112.3:n.*496A>C |
| ENST00000416804.1:c.1190A>C | |
| ENST00000418931.6:c.*496A>C | ENSP00000408146.2:n.*496A>C |