Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20890459C>T , CM000684.2:g.20890459C>T | GRCh38 |
| NC_000022.10:g.21244747C>T , CM000684.1:g.21244747C>T | GRCh37 |
| NC_000022.9:g.19574747C>T | NCBI36 |
| NG_012152.1:g.36456C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004782.4:c.*2623C>T MANE Select | NP_004773.1:n.*2623C>T |
| ENST00000215730.12:c.*2623C>T MANE Select | ENSP00000215730.6:n.*2623C>T |
| NM_004782.3:c.*2623C>T | NP_004773.1:n.*2623C>T |
| ENST00000215730.11:c.*2623C>T | ENSP00000215730.6:n.*2623C>T |