Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30700467G>C , CM000678.2:g.30700467G>C | GRCh38 |
| NC_000016.9:g.30711788G>C , CM000678.1:g.30711788G>C | GRCh37 |
| NC_000016.8:g.30619289G>C | NCBI36 |
| NG_032135.1:g.6327G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.-209-149G>C | ENSP00000405186.3:n.-209-149G>C | |
| ENST00000706321.1:c.-209-149G>C | ENSP00000516346.1:n.-209-149G>C | |
| ENST00000262518.9:c.-209-149G>C MANE Select | ENSP00000262518.4:n.-209-149G>C | |
| ENST00000262518.8:c.-209-149G>C | ENSP00000262518.4:n.-209-149G>C | |
| ENST00000411466.6:c.-209-149G>C | ENSP00000405186.2:n.-209-149G>C | |
| NM_006662.2:c.-209-149G>C | NP_006653.2:n.-209-149G>C | |
| NM_006662.3:c.-209-149G>C MANE Select | NP_006653.2:n.-209-149G>C |