Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116795C>T , CM000669.2:g.19116795C>T | GRCh38 |
| NC_000007.13:g.19156418C>T , CM000669.1:g.19156418C>T | GRCh37 |
| NC_000007.12:g.19122943C>T | NCBI36 |
| NG_008114.1:g.5878G>A | |
| NG_008114.2:g.5878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.527G>A MANE Select | ENSP00000242261.5:p.Ser176Asn | |
| ENST00000242261.5:c.527G>A | ENSP00000242261.5:p.Ser176Asn | |
| ENST00000354571.5:c.324G>A | ||
| ENST00000443687.5:c.130G>A | ||
| NM_000474.3:c.527G>A | NP_000465.1:p.Ser176Asn | |
| XM_011515496.1:c.527G>A | XP_011513798.1:p.Ser176Asn | |
| NR_149001.1:n.878G>A | ||
| NM_000474.4:c.527G>A MANE Select | NP_000465.1:p.Ser176Asn | |
| NR_149001.2:n.842G>A |