Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22826309A>C , CM000677.2:g.22826309A>C | GRCh38 |
| NC_000015.9:g.23046759T>G , CM000677.1:g.23046759T>G | GRCh37 |
| NC_000015.8:g.20598200T>G | NCBI36 |
| NG_009056.1:g.45085A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.*2070A>C MANE Select | NP_653200.2:n.*2070A>C |
| ENST00000337435.9:c.*2070A>C MANE Select | ENSP00000337452.4:n.*2070A>C |
| NM_001142275.1:c.*2070A>C | NP_001135747.1:n.*2070A>C |
| NM_144599.4:c.*2070A>C | NP_653200.2:n.*2070A>C |
| ENST00000337435.8:c.*2070A>C | ENSP00000337452.4:n.*2070A>C |
| ENST00000437912.6:c.*2070A>C | ENSP00000393962.2:n.*2070A>C |