Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67491107G>T , CM000673.2:g.67491107G>T | GRCh38 |
| NC_000011.9:g.67258578G>T , CM000673.1:g.67258578G>T | GRCh37 |
| NC_000011.8:g.67015154G>T | NCBI36 |
| NG_008969.1:g.13074G>T , LRG_460:g.13074G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684657.1:c.*114G>T | ENSP00000507961.1:n.*114G>T | |
| NM_001302959.1:c.*114G>T | NP_001289888.1:n.*114G>T | |
| NM_001302960.1:c.*247G>T | NP_001289889.1:n.*247G>T | |
| NM_003977.3:c.*114G>T | NP_003968.3:n.*114G>T |