Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49454890T>C , CM000672.2:g.49454890T>C | GRCh38 |
| NC_000010.10:g.50662936T>C , CM000672.1:g.50662936T>C | GRCh37 |
| NC_000010.9:g.50332942T>C | NCBI36 |
| NG_009442.1:g.89212A>G , LRG_465:g.89212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.*3925A>G MANE Select | ENSP00000348089.5:n.*3925A>G | |
| ENST00000679871.1:n.5553A>G | ||
| ENST00000679974.1:n.5456A>G | ||
| ENST00000681632.1:n.9810A>G | ||
| ENST00000681659.1:c.*3925A>G | ENSP00000505631.1:n.*3925A>G | |
| NM_000124.3:c.*3925A>G | NP_000115.1:n.*3925A>G | |
| XR_945953.1:n.243-16675T>C | ||
| NM_001346440.1:c.*3925A>G | NP_001333369.1:n.*3925A>G | |
| NM_000124.4:c.*3925A>G MANE Select | NP_000115.1:n.*3925A>G | |
| NM_001346440.2:c.*3925A>G | NP_001333369.1:n.*3925A>G |