Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21594849G>C , CM000668.2:g.21594849G>C | GRCh38 |
| NC_000006.11:g.21595080G>C , CM000668.1:g.21595080G>C | GRCh37 |
| NC_000006.10:g.21703059G>C | NCBI36 |
| NG_029166.1:g.6109G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.315G>C MANE Select | NP_003098.1:p.Lys105Asn |
| ENST00000244745.4:c.315G>C MANE Select | ENSP00000244745.1:p.Lys105Asn |
| NM_003107.2:c.315G>C | NP_003098.1:p.Lys105Asn |
| ENST00000244745.2:c.315G>C | ENSP00000244745.1:p.Lys105Asn |