Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128837982A>G , CM000669.2:g.128837982A>G | GRCh38 |
| NC_000007.13:g.128478036A>G , CM000669.1:g.128478036A>G | GRCh37 |
| NC_000007.12:g.128265272A>G | NCBI36 |
| NG_011807.1:g.12554A>G , LRG_870:g.12554A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001458.5:c.970-5A>G MANE Select | NP_001449.3:n.970-5A>G |
| ENST00000325888.13:c.970-5A>G MANE Select | ENSP00000327145.8:n.970-5A>G |
| NM_001127487.1:c.970-5A>G | NP_001120959.1:n.970-5A>G |
| NM_001127487.2:c.970-5A>G | NP_001120959.1:n.970-5A>G |
| NM_001458.4:c.970-5A>G , LRG_870t1:c.970-5A>G | NP_001449.3:n.970-5A>G |
| ENST00000325888.12:c.970-5A>G | ENSP00000327145.8:n.970-5A>G |
| ENST00000346177.6:c.970-5A>G | ENSP00000344002.6:n.970-5A>G |