Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38327473C>A , CM000681.2:g.38327473C>A | GRCh38 |
| NC_000019.9:g.38818113C>A , CM000681.1:g.38818113C>A | GRCh37 |
| NC_000019.8:g.43509953C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004823.3:c.*70C>A MANE Select | NP_004814.1:n.*70C>A |
| ENST00000263372.5:c.*70C>A MANE Select | ENSP00000263372.2:n.*70C>A |
| NM_004823.1:c.*70C>A | NP_004814.1:n.*70C>A |
| NM_004823.2:c.*70C>A | NP_004814.1:n.*70C>A |
| ENST00000263372.4:c.*70C>A | ENSP00000263372.2:n.*70C>A |
| XM_011527526.1:c.*70C>A | XP_011525828.1:n.*70C>A |
| XM_024451788.1:c.*70C>A | XP_024307556.1:n.*70C>A |