Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113942280A>G , CM000664.2:g.113942280A>G | GRCh38 |
| NC_000002.11:g.114699857A>G , CM000664.1:g.114699857A>G | GRCh37 |
| NC_000002.10:g.114416327A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263238.7:c.779A>G MANE Select | ENSP00000263238.2:p.Asn260Ser | |
| ENST00000263238.6:c.779A>G | ENSP00000263238.2:p.Asn260Ser | |
| ENST00000535589.3:c.626A>G | ENSP00000444987.1:p.Asn209Ser | |
| NM_001277140.1:c.626A>G | NP_001264069.1:p.Asn209Ser | |
| NM_005721.4:c.779A>G | NP_005712.1:p.Asn260Ser | |
| NR_102318.1:n.1000A>G | ||
| NM_005721.5:c.779A>G MANE Select | NP_005712.1:p.Asn260Ser |