Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7608756G>A , CM000679.2:g.7608756G>A | GRCh38 |
| NC_000017.10:g.7512074G>A , CM000679.1:g.7512074G>A | GRCh37 |
| NC_000017.9:g.7452799G>A | NCBI36 |
| NG_028105.1:g.11142C>T , LRG_285:g.11142C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004860.4:c.82-2607C>T MANE Select | NP_004851.2:n.82-2607C>T |
| ENST00000250113.12:c.82-2607C>T MANE Select | ENSP00000250113.7:n.82-2607C>T |
| NM_004860.3:c.82-2607C>T , LRG_285t1:c.82-2607C>T | NP_004851.2:n.82-2607C>T |
| ENST00000250113.11:c.82-2607C>T | ENSP00000250113.7:n.82-2607C>T |
| ENST00000571597.1:c.-129-2607C>T | ENSP00000459230.1:n.-129-2607C>T |
| ENST00000704984.1:c.301-2607C>T | ENSP00000516064.1:n.301-2607C>T |
| XR_243572.1:n.132-2607C>T | |
| XR_243572.2:n.132-2607C>T |