gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104769675C>G , CM000671.2:g.104769675C>G | GRCh38 |
| NC_000009.11:g.107531956C>G , CM000671.1:g.107531956C>G | GRCh37 |
| NC_000009.10:g.106571777C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374762.4:c.430+654C>G MANE Select | ENSP00000363894.3:n.430+654C>G | |
| ENST00000374762.3:c.430+654C>G | ENSP00000363894.3:n.430+654C>G | |
| ENST00000460936.5:c.430+654C>G | ENSP00000435209.1:n.430+654C>G | |
| ENST00000461177.1:n.265+654C>G | ||
| NM_018376.3:c.430+654C>G | NP_060846.2:n.430+654C>G | |
| NR_130759.1:n.719+654C>G | ||
| NR_130760.1:n.930+654C>G | ||
| XM_011518839.1:c.430+654C>G | XP_011517141.1:n.430+654C>G | |
| XR_428532.1:n.930+654C>G | ||
| XR_001746344.1:n.930+654C>G | ||
| XR_001746345.1:n.930+654C>G | ||
| NM_018376.4:c.430+654C>G MANE Select | NP_060846.2:n.430+654C>G | |
| NR_130759.2:n.331+654C>G | ||
| NR_130760.2:n.542+654C>G |