gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2315287G>A , CM000678.2:g.2315287G>A | GRCh38 |
| NC_000016.9:g.2365288G>A , CM000678.1:g.2365288G>A | GRCh37 |
| NC_000016.8:g.2305289G>A | NCBI36 |
| NG_011790.1:g.30460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.1111+1996C>T MANE Select | ENSP00000301732.5:n.1111+1996C>T | |
| ENST00000301732.9:c.1111+1996C>T | ENSP00000301732.5:n.1111+1996C>T | |
| ENST00000382381.7:c.1111+1996C>T | ENSP00000371818.3:n.1111+1996C>T | |
| ENST00000563623.5:n.1674+1996C>T | ||
| NM_001089.2:c.1111+1996C>T | NP_001080.2:n.1111+1996C>T | |
| NM_001089.3:c.1111+1996C>T MANE Select | NP_001080.2:n.1111+1996C>T |