Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912002C>T , CM000674.2:g.51912002C>T | GRCh38 |
| NC_000012.11:g.52305786C>T , CM000674.1:g.52305786C>T | GRCh37 |
| NC_000012.10:g.50592053C>T | NCBI36 |
| NG_009549.1:g.9585C>T , LRG_543:g.9585C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000020.3:c.-5-468C>T MANE Select | NP_000011.2:n.-5-468C>T |
| ENST00000388922.9:c.-5-468C>T MANE Select | ENSP00000373574.4:n.-5-468C>T |
| NM_000020.2:c.-5-468C>T , LRG_543t1:c.-5-468C>T | NP_000011.2:n.-5-468C>T |
| ENST00000388922.8:c.-5-468C>T | ENSP00000373574.4:n.-5-468C>T |
| ENST00000551576.5:c.-5-468C>T | ENSP00000455848.1:n.-5-468C>T |
| ENST00000551576.6:c.-5-468C>T | ENSP00000455848.2:n.-5-468C>T |
| ENST00000552678.2:c.-5-468C>T | ENSP00000457394.2:n.-5-468C>T |
| XM_005269235.2:c.-5-468C>T | XP_005269292.1:n.-5-468C>T |