Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55110537T>A , CM000666.2:g.55110537T>A | GRCh38 |
| NC_000004.11:g.55976704T>A , CM000666.1:g.55976704T>A | GRCh37 |
| NC_000004.10:g.55671461T>A | NCBI36 |
| NG_012004.1:g.20059A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1121A>T MANE Select | ENSP00000263923.4:p.Asn374Ile | |
| ENST00000647068.1:n.1134A>T | ||
| ENST00000263923.4:c.1121A>T | ENSP00000263923.4:p.Asn374Ile | |
| ENST00000512566.1:n.1121A>T | ||
| NM_002253.2:c.1121A>T | NP_002244.1:p.Asn374Ile | |
| NM_002253.3:c.1121A>T | NP_002244.1:p.Asn374Ile | |
| NM_002253.4:c.1121A>T MANE Select | NP_002244.1:p.Asn374Ile |