Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38327488C>T , CM000681.2:g.38327488C>T | GRCh38 |
| NC_000019.9:g.38818128C>T , CM000681.1:g.38818128C>T | GRCh37 |
| NC_000019.8:g.43509968C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004823.3:c.*85C>T MANE Select | NP_004814.1:n.*85C>T |
| ENST00000263372.5:c.*85C>T MANE Select | ENSP00000263372.2:n.*85C>T |
| NM_004823.1:c.*85C>T | NP_004814.1:n.*85C>T |
| NM_004823.2:c.*85C>T | NP_004814.1:n.*85C>T |
| ENST00000263372.4:c.*85C>T | ENSP00000263372.2:n.*85C>T |
| XM_011527526.1:c.*85C>T | XP_011525828.1:n.*85C>T |
| XM_024451788.1:c.*85C>T | XP_024307556.1:n.*85C>T |