Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38327485G>T , CM000681.2:g.38327485G>T | GRCh38 |
| NC_000019.9:g.38818125G>T , CM000681.1:g.38818125G>T | GRCh37 |
| NC_000019.8:g.43509965G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004823.3:c.*82G>T MANE Select | NP_004814.1:n.*82G>T |
| ENST00000263372.5:c.*82G>T MANE Select | ENSP00000263372.2:n.*82G>T |
| NM_004823.1:c.*82G>T | NP_004814.1:n.*82G>T |
| NM_004823.2:c.*82G>T | NP_004814.1:n.*82G>T |
| ENST00000263372.4:c.*82G>T | ENSP00000263372.2:n.*82G>T |
| XM_011527526.1:c.*82G>T | XP_011525828.1:n.*82G>T |
| XM_024451788.1:c.*82G>T | XP_024307556.1:n.*82G>T |