Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8648076C>G , CM000674.2:g.8648076C>G | GRCh38 |
| NC_000012.11:g.8800672C>G , CM000674.1:g.8800672C>G | GRCh37 |
| NC_000012.10:g.8691939C>G | NCBI36 |
| NG_041814.1:g.19813G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.*15G>C MANE Select | ENSP00000352455.2:n.*15G>C | |
| ENST00000359478.6:c.*15G>C | ENSP00000352455.2:n.*15G>C | |
| ENST00000396549.6:c.*15G>C | ENSP00000379798.2:n.*15G>C | |
| ENST00000433590.6:c.*15G>C | ENSP00000411997.2:n.*15G>C | |
| ENST00000535336.5:c.*15G>C | ENSP00000438525.1:n.*15G>C | |
| ENST00000535411.5:c.506G>C | ||
| ENST00000543369.5:c.*15G>C | ENSP00000441492.1:n.*15G>C | |
| ENST00000543467.5:c.255G>C | ENSP00000444531.1:n.255G>C | |
| ENST00000544211.5:c.*189G>C | ENSP00000443839.1:n.*189G>C | |
| NM_001297709.1:c.*15G>C | NP_001284638.1:n.*15G>C | |
| NM_001297710.1:c.*15G>C | NP_001284639.1:n.*15G>C | |
| NM_001297711.1:c.*15G>C | NP_001284640.1:n.*15G>C | |
| NM_001297712.1:c.*15G>C | NP_001284641.1:n.*15G>C | |
| NM_003480.3:c.*15G>C | NP_003471.1:n.*15G>C | |
| NR_123733.1:n.870G>C | ||
| NR_123734.1:n.840G>C | ||
| NM_003480.4:c.*15G>C MANE Select | NP_003471.1:n.*15G>C | |
| NM_001297709.2:c.*15G>C | NP_001284638.1:n.*15G>C | |
| NM_001297710.2:c.*15G>C | NP_001284639.1:n.*15G>C | |
| NM_001297711.2:c.*15G>C | NP_001284640.1:n.*15G>C | |
| NM_001297712.2:c.*15G>C | NP_001284641.1:n.*15G>C | |
| NR_123733.2:n.808G>C | ||
| NR_123734.2:n.778G>C |