Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251166G>A , CM000664.2:g.96251166G>A | GRCh38 |
| NC_000002.11:g.96916904G>A , CM000664.1:g.96916904G>A | GRCh37 |
| NC_000002.10:g.96280631G>A | NCBI36 |
| NG_027695.1:g.19848C>T , LRG_528:g.19848C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2642C>T MANE Select | ENSP00000258439.3:n.*2642C>T | |
| ENST00000258439.7:c.*2642C>T | ENSP00000258439.2:n.*2642C>T | |
| NM_001193304.2:c.*2642C>T | NP_001180233.1:n.*2642C>T | |
| NM_017849.3:c.*2642C>T , LRG_528t1:c.*2642C>T | NP_060319.1:n.*2642C>T | |
| XM_017004450.1:c.*1943C>T | XP_016859939.1:n.*1943C>T | |
| XM_017004452.1:c.*2642C>T | XP_016859941.1:n.*2642C>T | |
| NM_001193304.3:c.*2642C>T | NP_001180233.1:n.*2642C>T | |
| NM_017849.4:c.*2642C>T MANE Select | NP_060319.1:n.*2642C>T |