Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49454725C>T , CM000672.2:g.49454725C>T | GRCh38 |
| NC_000010.10:g.50662771C>T , CM000672.1:g.50662771C>T | GRCh37 |
| NC_000010.9:g.50332777C>T | NCBI36 |
| NG_009442.1:g.89377G>A , LRG_465:g.89377G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000124.4:c.*4090G>A MANE Select | NP_000115.1:n.*4090G>A |
| ENST00000355832.10:c.*4090G>A MANE Select | ENSP00000348089.5:n.*4090G>A |
| NM_000124.3:c.*4090G>A | NP_000115.1:n.*4090G>A |
| NM_001346440.1:c.*4090G>A | NP_001333369.1:n.*4090G>A |
| NM_001346440.2:c.*4090G>A | NP_001333369.1:n.*4090G>A |
| ENST00000679871.1:n.5718G>A | |
| ENST00000679974.1:n.5621G>A | |
| ENST00000681632.1:n.9975G>A | |
| ENST00000681659.1:c.*4090G>A | ENSP00000505631.1:n.*4090G>A |
| XR_945953.1:n.243-16840C>T |