Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95245287G>A , CM000670.2:g.95245287G>A | GRCh38 |
| NC_000008.10:g.96257515G>A , CM000670.1:g.96257515G>A | GRCh37 |
| NC_000008.9:g.96326691G>A | NCBI36 |
| NG_032804.1:g.28948C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.*2330C>T MANE Select | NP_808880.1:n.*2330C>T |
| ENST00000286688.6:c.*2330C>T MANE Select | ENSP00000286688.5:n.*2330C>T |
| NM_001363260.1:c.*2330C>T | NP_001350189.1:n.*2330C>T |
| NM_177965.3:c.*2330C>T | NP_808880.1:n.*2330C>T |
| ENST00000286688.5:c.*2330C>T | ENSP00000286688.5:n.*2330C>T |