gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39543931C>T , CM000675.2:g.39543931C>T | GRCh38 |
| NC_000013.10:g.40118068C>T , CM000675.1:g.40118068C>T | GRCh37 |
| NC_000013.9:g.39016068C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379589.4:c.385+56901G>A MANE Select | ENSP00000368908.3:n.385+56901G>A | |
| ENST00000648377.1:c.385+56901G>A | ENSP00000496801.1:n.385+56901G>A | |
| ENST00000379589.3:c.385+56901G>A | ENSP00000368908.3:n.385+56901G>A | |
| NM_005780.2:c.385+56901G>A | NP_005771.1:n.385+56901G>A | |
| XM_011534861.1:c.385+56901G>A | XP_011533163.1:n.385+56901G>A | |
| NM_005780.3:c.385+56901G>A MANE Select | NP_005771.1:n.385+56901G>A |