Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160076995T>G , CM000668.2:g.160076995T>G | GRCh38 |
| NC_000006.11:g.160498027T>G , CM000668.1:g.160498027T>G | GRCh37 |
| NC_000006.10:g.160418017T>G | NCBI36 |
| NG_011785.3:g.112897T>G | |
| NG_011785.4:g.112897T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356956.6:c.5316+999T>G MANE Select | ENSP00000349437.1:n.5316+999T>G | |
| ENST00000650503.1:n.1926+999T>G | ||
| ENST00000676781.1:c.*3424+999T>G | ENSP00000504419.1:n.*3424+999T>G | |
| ENST00000677704.1:c.*1187+999T>G | ENSP00000503314.1:n.*1187+999T>G | |
| ENST00000356956.5:c.5316+999T>G | ENSP00000349437.1:n.5316+999T>G | |
| NM_000876.2:c.5316+999T>G | NP_000867.2:n.5316+999T>G | |
| NM_000876.3:c.5316+999T>G | NP_000867.2:n.5316+999T>G | |
| NM_000876.4:c.5316+999T>G MANE Select | NP_000867.3:n.5316+999T>G |