Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123760907A>C , CM000674.2:g.123760907A>C | GRCh38 |
| NC_000012.11:g.124245454A>C , CM000674.1:g.124245454A>C | GRCh37 |
| NC_000012.10:g.122811407A>C | NCBI36 |
| NG_012743.1:g.53590A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012463.4:c.*2875A>C MANE Select | NP_036595.2:n.*2875A>C |
| ENST00000330342.8:c.*2875A>C MANE Select | ENSP00000332247.2:n.*2875A>C |
| NM_012463.3:c.*2875A>C | NP_036595.2:n.*2875A>C |
| ENST00000330342.7:c.*2875A>C | ENSP00000332247.2:n.*2875A>C |
| XM_024448910.1:c.*2875A>C | XP_024304678.1:n.*2875A>C |