Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905570A>G , CM000676.2:g.50905570A>G | GRCh38 |
| NC_000014.8:g.51372288A>G , CM000676.1:g.51372288A>G | GRCh37 |
| NC_000014.7:g.50442038A>G | NCBI36 |
| NG_012796.1:g.43961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2380-14T>C MANE Select | ENSP00000216392.7:n.2380-14T>C | |
| ENST00000216392.7:c.2380-14T>C | ENSP00000216392.7:n.2380-14T>C | |
| ENST00000532462.5:c.2379+2701T>C | ENSP00000431657.1:n.2379+2701T>C | |
| ENST00000544180.6:c.2278-14T>C | ENSP00000443787.1:n.2278-14T>C | |
| NM_001163940.1:c.2278-14T>C | NP_001157412.1:n.2278-14T>C | |
| NM_002863.4:c.2380-14T>C | NP_002854.3:n.2380-14T>C | |
| NM_002863.5:c.2380-14T>C MANE Select | NP_002854.3:n.2380-14T>C | |
| NM_001163940.2:c.2278-14T>C | NP_001157412.1:n.2278-14T>C |