Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274804C= , CM000681.2:g.2274804C= | GRCh38 |
| NC_000019.9:g.2274803C= , CM000681.1:g.2274803C= | GRCh37 |
| NC_000019.8:g.2225803C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*876G= MANE Select | ENSP00000345102.3:n.*876G= | |
| ENST00000342063.4:c.*876G= | ENSP00000345102.3:n.*876G= | |
| ENST00000621615.1:c.146+5060C= | ENSP00000481965.1:n.146+5060C= | |
| NM_198532.2:c.*876G= | NP_940934.1:n.*876G= | |
| NM_198532.3:c.*876G= MANE Select | NP_940934.1:n.*876G= |