Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999388C= , CM000664.2:g.188999388C= | GRCh38 |
| NC_000002.11:g.189864114C= , CM000664.1:g.189864114C= | GRCh37 |
| NC_000002.10:g.189572359C= | NCBI36 |
| NG_007404.1:g.30016C= , LRG_3:g.30016C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2022+5C= | ENSP00000415346.2:n.2022+5C= | |
| ENST00000304636.9:c.2121+5C= MANE Select | ENSP00000304408.4:n.2121+5C= | |
| ENST00000304636.7:c.2121+5C= | ENSP00000304408.3:n.2121+5C= | |
| ENST00000317840.9:c.2121+5C= | ENSP00000315243.6:n.2121+5C= | |
| NM_000090.3:c.2121+5C= , LRG_3t1:c.2121+5C= | NP_000081.1:n.2121+5C= | |
| NM_000090.4:c.2121+5C= MANE Select | NP_000081.2:n.2121+5C= |