gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60441351G>A , CM000673.2:g.60441351G>A | GRCh38 |
| NC_000011.9:g.60208824G>A , CM000673.1:g.60208824G>A | GRCh37 |
| NC_000011.8:g.59965400G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300190.7:c.493-6298G>A MANE Select | ENSP00000300190.2:n.493-6298G>A | |
| ENST00000300190.6:c.493-6298G>A | ENSP00000300190.2:n.493-6298G>A | |
| ENST00000528093.1:c.136-6298G>A | ||
| ENST00000528905.1:c.260-6298G>A | ||
| ENST00000531403.5:c.*101-6298G>A | ENSP00000435192.1:n.*101-6298G>A | |
| ENST00000533885.5:c.*103+5836G>A | ENSP00000435330.1:n.*103+5836G>A | |
| NM_023945.2:c.493-6298G>A | NP_076434.2:n.493-6298G>A | |
| NM_023945.3:c.493-6298G>A MANE Select | NP_076434.2:n.493-6298G>A |