Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912308T>C , CM000674.2:g.51912308T>C | GRCh38 |
| NC_000012.11:g.52306092T>C , CM000674.1:g.52306092T>C | GRCh37 |
| NC_000012.10:g.50592359T>C | NCBI36 |
| NG_009549.1:g.9891T>C , LRG_543:g.9891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.-5-162T>C | ENSP00000455848.2:n.-5-162T>C | |
| ENST00000552678.2:c.-5-162T>C | ENSP00000457394.2:n.-5-162T>C | |
| ENST00000388922.9:c.-5-162T>C MANE Select | ENSP00000373574.4:n.-5-162T>C | |
| ENST00000388922.8:c.-5-162T>C | ENSP00000373574.4:n.-5-162T>C | |
| ENST00000551576.5:c.-5-162T>C | ENSP00000455848.1:n.-5-162T>C | |
| NM_000020.2:c.-5-162T>C , LRG_543t1:c.-5-162T>C | NP_000011.2:n.-5-162T>C | |
| XM_005269235.2:c.-5-162T>C | XP_005269292.1:n.-5-162T>C | |
| NM_000020.3:c.-5-162T>C MANE Select | NP_000011.2:n.-5-162T>C |