Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084760A>G , CM000685.2:g.108084760A>G | GRCh38 |
| NC_000023.10:g.107327990A>G , CM000685.1:g.107327990A>G | GRCh37 |
| NC_000023.9:g.107214646A>G | NCBI36 |
| NG_012521.1:g.11859T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217958.8:c.*214T>C MANE Select | ENSP00000217958.3:n.*214T>C | |
| ENST00000217958.7:c.*214T>C | ENSP00000217958.3:n.*214T>C | |
| ENST00000372296.5:c.*360T>C | ENSP00000361370.1:n.*360T>C | |
| NM_002814.3:c.*214T>C | NP_002805.1:n.*214T>C | |
| NM_170750.2:c.*360T>C | NP_736606.1:n.*360T>C | |
| NM_002814.4:c.*214T>C MANE Select | NP_002805.1:n.*214T>C | |
| NM_170750.3:c.*360T>C | NP_736606.1:n.*360T>C |