Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2444410T>C , CM000681.2:g.2444410T>C | GRCh38 |
| NC_000019.9:g.2444408T>C , CM000681.1:g.2444408T>C | GRCh37 |
| NC_000019.8:g.2395408T>C | NCBI36 |
| NG_008355.1:g.17551A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.395A>G MANE Select | NP_116126.3:p.Asn132Ser |
| ENST00000325327.4:c.395A>G MANE Select | ENSP00000327054.3:p.Asn132Ser |
| NM_032737.3:c.395A>G | NP_116126.3:p.Asn132Ser |
| ENST00000325327.3:c.395A>G | ENSP00000327054.3:p.Asn132Ser |
| XM_011528378.1:c.395A>G | XP_011526680.1:p.Asn132Ser |