gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121334711A>C , CM000669.2:g.121334711A>C | GRCh38 |
| NC_000007.13:g.120974765A>C , CM000669.1:g.120974765A>C | GRCh37 |
| NC_000007.12:g.120762001A>C | NCBI36 |
| NG_029242.1:g.14345A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222462.3:c.633+2747A>C MANE Select | ENSP00000222462.2:n.633+2747A>C | |
| ENST00000222462.2:c.633+2747A>C | ENSP00000222462.2:n.633+2747A>C | |
| ENST00000361301.6:c.603+2747A>C | ENSP00000355065.2:n.603+2747A>C | |
| NM_016087.2:c.603+2747A>C | NP_057171.2:n.603+2747A>C | |
| NM_057168.1:c.633+2747A>C | NP_476509.1:n.633+2747A>C | |
| NM_057168.2:c.633+2747A>C MANE Select | NP_476509.1:n.633+2747A>C |