Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96889891G>A , CM000668.2:g.96889891G>A | GRCh38 |
| NC_000006.11:g.97337767G>A , CM000668.1:g.97337767G>A | GRCh37 |
| NC_000006.10:g.97444488G>A | NCBI36 |
| NG_013379.1:g.13001C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.*1213C>T MANE Select | NP_054884.1:n.*1213C>T |
| ENST00000316149.8:c.*1213C>T MANE Select | ENSP00000358272.4:n.*1213C>T |
| NM_014165.3:c.*1213C>T | NP_054884.1:n.*1213C>T |
| ENST00000316149.7:c.*1213C>T | ENSP00000358272.4:n.*1213C>T |