Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38433722T>C , CM000681.2:g.38433722T>C | GRCh38 |
| NC_000019.9:g.38924362T>C , CM000681.1:g.38924362T>C | GRCh37 |
| NC_000019.8:g.43616202T>C | NCBI36 |
| NG_008866.1:g.5023T>C , LRG_766:g.5023T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000540.3:c.-108T>C MANE Select | NP_000531.2:n.-108T>C |
| ENST00000359596.8:c.-108T>C MANE Select | ENSP00000352608.2:n.-108T>C |
| NM_000540.2:c.-108T>C , LRG_766t1:c.-108T>C | NP_000531.2:n.-108T>C |
| NM_001042723.1:c.-108T>C | NP_001036188.1:n.-108T>C |
| NM_001042723.2:c.-108T>C | NP_001036188.1:n.-108T>C |
| ENST00000355481.8:c.-108T>C | ENSP00000347667.3:n.-108T>C |