Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191656C>T , CM000666.2:g.186191656C>T | GRCh38 |
| NC_000004.11:g.187112810C>T , CM000666.1:g.187112810C>T | GRCh37 |
| NC_000004.10:g.187349804C>T | NCBI36 |
| NG_007965.1:g.5137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-168C>T MANE Select | ENSP00000368079.4:n.-168C>T | |
| ENST00000378802.4:c.-168C>T | ENSP00000368079.4:n.-168C>T | |
| NM_207352.3:c.-168C>T | NP_997235.3:n.-168C>T | |
| XM_005262935.2:c.-168C>T | XP_005262992.1:n.-168C>T | |
| NM_207352.4:c.-168C>T MANE Select | NP_997235.3:n.-168C>T |