Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183124740T>C , CM000663.2:g.183124740T>C | GRCh38 |
| NC_000001.10:g.183093875T>C , CM000663.1:g.183093875T>C | GRCh37 |
| NC_000001.9:g.181360498T>C | NCBI36 |
| NG_011463.1:g.106281T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.2511T>C MANE Select | ENSP00000258341.3:p.Asn837= | |
| ENST00000258341.4:c.2511T>C | ENSP00000258341.3:p.Asn837= | |
| NM_002293.3:c.2511T>C | NP_002284.3:p.Asn837= | |
| NM_002293.4:c.2511T>C MANE Select | NP_002284.3:p.Asn837= |