Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212897830T>C , CM000663.2:g.212897830T>C | GRCh38 |
| NC_000001.10:g.213071172T>C , CM000663.1:g.213071172T>C | GRCh37 |
| NC_000001.9:g.211137795T>C | NCBI36 |
| NG_028131.1:g.44576T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.*2540T>C MANE Select | NP_054772.1:n.*2540T>C |
| ENST00000366971.9:c.*2540T>C MANE Select | ENSP00000355938.4:n.*2540T>C |
| NM_014053.3:c.*2540T>C | NP_054772.1:n.*2540T>C |
| ENST00000366971.8:c.*2540T>C | ENSP00000355938.4:n.*2540T>C |