Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57361752G>T , CM000678.2:g.57361752G>T | GRCh38 |
| NC_000016.9:g.57395664G>T , CM000678.1:g.57395664G>T | GRCh37 |
| NC_000016.8:g.55953165G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002990.5:c.197+1192G>T MANE Select | NP_002981.2:n.197+1192G>T |
| ENST00000219235.5:c.197+1192G>T MANE Select | ENSP00000219235.4:n.197+1192G>T |
| NM_002990.4:c.197+1192G>T | NP_002981.2:n.197+1192G>T |
| ENST00000219235.4:c.197+1192G>T | ENSP00000219235.4:n.197+1192G>T |