Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184902089A>C , CM000664.2:g.184902089A>C | GRCh38 |
| NC_000002.11:g.185766816A>C , CM000664.1:g.185766816A>C | GRCh37 |
| NC_000002.10:g.185475061A>C | NCBI36 |
| NG_046950.1:g.308724A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194250.2:c.256-31514A>C MANE Select | NP_919226.1:n.256-31514A>C |
| ENST00000302277.7:c.256-31514A>C MANE Select | ENSP00000303252.6:n.256-31514A>C |
| NM_194250.1:c.256-31514A>C | NP_919226.1:n.256-31514A>C |
| ENST00000302277.6:c.256-31514A>C | ENSP00000303252.6:n.256-31514A>C |
| ENST00000613975.1:c.1-31514A>C | ENSP00000483032.1:n.1-31514A>C |