Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96889736T>C , CM000668.2:g.96889736T>C | GRCh38 |
| NC_000006.11:g.97337612T>C , CM000668.1:g.97337612T>C | GRCh37 |
| NC_000006.10:g.97444333T>C | NCBI36 |
| NG_013379.1:g.13156A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.*1368A>G MANE Select | NP_054884.1:n.*1368A>G |
| ENST00000316149.8:c.*1368A>G MANE Select | ENSP00000358272.4:n.*1368A>G |
| NM_014165.3:c.*1368A>G | NP_054884.1:n.*1368A>G |
| ENST00000316149.7:c.*1368A>G | ENSP00000358272.4:n.*1368A>G |