gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67737817C>T , CM000666.2:g.67737817C>T | GRCh38 |
| NC_000004.11:g.68603535C>T , CM000666.1:g.68603535C>T | GRCh37 |
| NC_000004.10:g.68286130C>T | NCBI36 |
| NG_009293.1:g.23270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*2663G>A MANE Select | ENSP00000226413.5:n.*2663G>A | |
| NM_000406.2:c.*2663G>A | NP_000397.1:n.*2663G>A | |
| NM_001012763.1:c.*2772G>A | NP_001012781.1:n.*2772G>A | |
| NM_000406.3:c.*2663G>A MANE Select | NP_000397.1:n.*2663G>A | |
| NM_001012763.2:c.*2772G>A | NP_001012781.1:n.*2772G>A |