Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121449330T>C , CM000668.2:g.121449330T>C | GRCh38 |
| NC_000006.11:g.121770476T>C , CM000668.1:g.121770476T>C | GRCh37 |
| NC_000006.10:g.121812175T>C | NCBI36 |
| NG_008308.1:g.18732T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.*1334T>C MANE Select | NP_000156.1:n.*1334T>C |
| ENST00000282561.4:c.*1334T>C MANE Select | ENSP00000282561.3:n.*1334T>C |
| NM_000165.4:c.*1334T>C | NP_000156.1:n.*1334T>C |
| ENST00000282561.3:c.*1334T>C | ENSP00000282561.3:n.*1334T>C |
| ENST00000649003.1:c.*1334T>C | ENSP00000497283.1:n.*1334T>C |
| ENST00000650427.1:c.*1334T>C | ENSP00000497367.1:n.*1334T>C |