Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564880C>T , CM000684.2:g.36564880C>T | GRCh38 |
| NC_000022.10:g.36960927C>T , CM000684.1:g.36960927C>T | GRCh37 |
| NC_000022.9:g.35290873C>T | NCBI36 |
| NG_031861.1:g.142764G>A | |
| NG_031861.2:g.142979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.443G>A MANE Select | ENSP00000300105.6:p.Ser148Asn | |
| ENST00000300105.6:c.443G>A | ENSP00000300105.6:p.Ser148Asn | |
| NM_006078.3:c.443G>A | NP_006069.1:p.Ser148Asn | |
| NM_006078.4:c.443G>A | NP_006069.1:p.Ser148Asn | |
| XM_017028531.2:c.185G>A | XP_016884020.1:p.Ser62Asn | |
| NM_001379051.1:c.374G>A | NP_001365980.1:p.Ser125Asn | |
| NM_006078.5:c.443G>A MANE Select | NP_006069.1:p.Ser148Asn | |
| NR_166440.1:n.1809G>A |