Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1233096A>G , CM000663.2:g.1233096A>G | GRCh38 |
| NC_000001.10:g.1168476A>G , CM000663.1:g.1168476A>G | GRCh37 |
| NC_000001.9:g.1158339A>G | NCBI36 |
| NG_030007.1:g.3972T>C | |
| NG_033265.1:g.5848A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.818A>G MANE Select | ENSP00000368496.2:p.Asn273Ser | |
| ENST00000379198.3:c.818A>G | ENSP00000368496.2:p.Asn273Ser | |
| NM_080605.3:c.818A>G | NP_542172.2:p.Asn273Ser | |
| NM_080605.4:c.818A>G MANE Select | NP_542172.2:p.Asn273Ser |