Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160009624A>C , CM000668.2:g.160009624A>C | GRCh38 |
| NC_000006.11:g.160430656A>C , CM000668.1:g.160430656A>C | GRCh37 |
| NC_000006.10:g.160350646A>C | NCBI36 |
| NG_011785.3:g.45526A>C | |
| NG_011785.4:g.45526A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000876.4:c.414+490A>C MANE Select | NP_000867.3:n.414+490A>C |
| ENST00000356956.6:c.414+490A>C MANE Select | ENSP00000349437.1:n.414+490A>C |
| NM_000876.2:c.414+490A>C | NP_000867.2:n.414+490A>C |
| NM_000876.3:c.414+490A>C | NP_000867.2:n.414+490A>C |
| ENST00000356956.5:c.414+490A>C | ENSP00000349437.1:n.414+490A>C |
| ENST00000676781.1:c.414+490A>C | ENSP00000504419.1:n.414+490A>C |
| ENST00000677704.1:c.414+490A>C | ENSP00000503314.1:n.414+490A>C |
| XR_942419.1:n.429+490A>C |