Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35241055G>A , CM000669.2:g.35241055G>A | GRCh38 |
| NC_000007.13:g.35280667G>A , CM000669.1:g.35280667G>A | GRCh37 |
| NC_000007.12:g.35247192G>A | NCBI36 |
| NG_015805.1:g.18045C>T , LRG_755:g.18045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408931.4:c.655-18C>T MANE Select | ENSP00000386170.3:n.655-18C>T | |
| ENST00000408931.3:c.655-18C>T | ENSP00000386170.3:n.655-18C>T | |
| ENST00000492961.1:n.666-18C>T | ||
| NM_001077653.2:c.655-18C>T , LRG_755t1:c.655-18C>T MANE Select | NP_001071121.1:n.655-18C>T | |
| NM_001166220.1:c.655-18C>T | NP_001159692.1:n.655-18C>T | |
| XM_017012456.1:c.58-18C>T | XP_016867945.1:n.58-18C>T |