Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35030676C>A , CM000681.2:g.35030676C>A | GRCh38 |
| NC_000019.9:g.35521580C>A , CM000681.1:g.35521580C>A | GRCh37 |
| NC_000019.8:g.40213420C>A | NCBI36 |
| NG_013359.1:g.4989C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001037.5:c.-145C>A MANE Select | NP_001028.1:n.-145C>A |
| ENST00000262631.11:c.-145C>A MANE Select | ENSP00000262631.3:n.-145C>A |
| NM_199037.5:c.-145C>A | NP_950238.1:n.-145C>A |
| ENST00000415950.5:c.-145C>A | ENSP00000396915.2:n.-145C>A |
| ENST00000638536.1:c.-145C>A | ENSP00000492022.1:n.-145C>A |