gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27800492C>T , CM000679.2:g.27800492C>T | GRCh38 |
| NC_000017.10:g.26127518C>T , CM000679.1:g.26127518C>T | GRCh37 |
| NC_000017.9:g.23151645C>T | NCBI36 |
| NG_011470.1:g.5038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313735.11:c.-227G>A MANE Select | ENSP00000327251.6:n.-227G>A | |
| ENST00000313735.10:c.-227G>A | ENSP00000327251.6:n.-227G>A | |
| ENST00000582441.1:c.439-1610G>A | ENSP00000462879.1:n.439-1610G>A | |
| NM_000625.4:c.-227G>A MANE Select | NP_000616.3:n.-227G>A | |
| XM_011524859.1:c.-73-1610G>A | XP_011523161.1:n.-73-1610G>A | |
| XM_011524861.1:c.-227G>A | XP_011523163.1:n.-227G>A |