Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322499T>G , CM000677.2:g.73322499T>G | GRCh38 |
| NC_000015.9:g.73614840T>G , CM000677.1:g.73614840T>G | GRCh37 |
| NC_000015.8:g.71401893T>G | NCBI36 |
| NG_009063.1:g.51766A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3594A>C MANE Select | ENSP00000261917.3:p.Lys1198Asn | |
| ENST00000261917.3:c.3594A>C | ENSP00000261917.3:p.Lys1198Asn | |
| NM_005477.2:c.3594A>C | NP_005468.1:p.Lys1198Asn | |
| XM_011521148.1:c.2376A>C | XP_011519450.1:p.Lys792Asn | |
| XM_011521148.2:c.2376A>C | XP_011519450.1:p.Lys792Asn | |
| NM_005477.3:c.3594A>C MANE Select | NP_005468.1:p.Lys1198Asn |