Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95245451A>C , CM000670.2:g.95245451A>C | GRCh38 |
| NC_000008.10:g.96257679A>C , CM000670.1:g.96257679A>C | GRCh37 |
| NC_000008.9:g.96326855A>C | NCBI36 |
| NG_032804.1:g.28784T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.*2166T>G MANE Select | NP_808880.1:n.*2166T>G |
| ENST00000286688.6:c.*2166T>G MANE Select | ENSP00000286688.5:n.*2166T>G |
| NM_001363260.1:c.*2166T>G | NP_001350189.1:n.*2166T>G |
| NM_177965.3:c.*2166T>G | NP_808880.1:n.*2166T>G |
| ENST00000286688.5:c.*2166T>G | ENSP00000286688.5:n.*2166T>G |