Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156298822T>C , CM000663.2:g.156298822T>C | GRCh38 |
| NC_000001.10:g.156268613T>C , CM000663.1:g.156268613T>C | GRCh37 |
| NC_000001.9:g.154535237T>C | NCBI36 |
| NG_012639.1:g.5816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339922.5:c.368A>G MANE Select | ENSP00000464258.2:p.Asn123Ser | |
| ENST00000339922.4:c.368A>G | ENSP00000464258.1:p.Asn123Ser | |
| NM_001004319.2:c.368A>G | NP_001004319.1:p.Asn123Ser | |
| NM_001004319.3:c.368A>G MANE Select | NP_001004319.1:p.Asn123Ser |