Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49454796T>C , CM000672.2:g.49454796T>C | GRCh38 |
| NC_000010.10:g.50662842T>C , CM000672.1:g.50662842T>C | GRCh37 |
| NC_000010.9:g.50332848T>C | NCBI36 |
| NG_009442.1:g.89306A>G , LRG_465:g.89306A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000124.4:c.*4019A>G MANE Select | NP_000115.1:n.*4019A>G |
| ENST00000355832.10:c.*4019A>G MANE Select | ENSP00000348089.5:n.*4019A>G |
| NM_000124.3:c.*4019A>G | NP_000115.1:n.*4019A>G |
| NM_001346440.1:c.*4019A>G | NP_001333369.1:n.*4019A>G |
| NM_001346440.2:c.*4019A>G | NP_001333369.1:n.*4019A>G |
| ENST00000679871.1:n.5647A>G | |
| ENST00000679974.1:n.5550A>G | |
| ENST00000681632.1:n.9904A>G | |
| ENST00000681659.1:c.*4019A>G | ENSP00000505631.1:n.*4019A>G |
| XR_945953.1:n.243-16769T>C |