Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155264372G>C , CM000685.2:g.155264372G>C | GRCh38 |
| NC_000023.10:g.154493657G>C , CM000685.1:g.154493657G>C | GRCh37 |
| NC_000023.9:g.154146851G>C | NCBI36 |
| NG_012626.2:g.5190C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_171998.4:c.-84C>G MANE Select | NP_741995.1:n.-84C>G |
| ENST00000369454.4:c.-84C>G MANE Select | ENSP00000358466.3:n.-84C>G |
| NM_171998.3:c.-84C>G | NP_741995.1:n.-84C>G |
| ENST00000369454.3:c.-84C>G | ENSP00000358466.3:n.-84C>G |