Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259930T>A , CM000667.2:g.151259930T>A | GRCh38 |
| NC_000005.9:g.150639491T>A , CM000667.1:g.150639491T>A | GRCh37 |
| NC_000005.8:g.150619684T>A | NCBI36 |
| NG_009059.1:g.11879T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.243+14T>A MANE Select | ENSP00000349687.3:n.243+14T>A | |
| ENST00000357164.3:c.243+14T>A | ENSP00000349687.3:n.243+14T>A | |
| ENST00000523004.1:c.118+14T>A | ||
| ENST00000523466.5:c.288+14T>A | ENSP00000429100.1:n.288+14T>A | |
| NM_000405.4:c.243+14T>A | NP_000396.2:n.243+14T>A | |
| NM_001167607.1:c.243+14T>A | NP_001161079.1:n.243+14T>A | |
| NM_000405.5:c.243+14T>A MANE Select | NP_000396.2:n.243+14T>A | |
| NM_001167607.2:c.243+14T>A | NP_001161079.1:n.243+14T>A | |
| NM_001167607.3:c.243+14T>A | NP_001161079.1:n.243+14T>A |