Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102226565A>G , CM000672.2:g.102226565A>G | GRCh38 |
| NC_000010.10:g.103986322A>G , CM000672.1:g.103986322A>G | GRCh37 |
| NC_000010.9:g.103976312A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370005.4:c.17A>G MANE Select | ENSP00000359022.3:p.Asn6Ser | |
| ENST00000370005.3:c.17A>G | ENSP00000359022.3:p.Asn6Ser | |
| NM_152310.2:c.17A>G | NP_689523.1:p.Asn6Ser | |
| XM_011540245.1:c.17A>G | XP_011538547.1:p.Asn6Ser | |
| XM_011540245.2:c.17A>G | XP_011538547.1:p.Asn6Ser | |
| NM_152310.3:c.17A>G MANE Select | NP_689523.1:p.Asn6Ser |