gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121631045C>G , CM000671.2:g.121631045C>G | GRCh38 |
| NC_000009.11:g.124393324C>G , CM000671.1:g.124393324C>G | GRCh37 |
| NC_000009.10:g.123433145C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259371.7:c.41-47633C>G | ENSP00000259371.2:n.41-47633C>G | |
| ENST00000436835.6:c.41-47633C>G | ENSP00000409327.2:n.41-47633C>G | |
| ENST00000259371.6:c.41-47633C>G | ENSP00000259371.2:n.41-47633C>G | |
| ENST00000394340.7:c.41-47633C>G | ENSP00000377872.3:n.41-47633C>G | |
| ENST00000436835.5:c.-114-47633C>G | ENSP00000409327.1:n.-114-47633C>G | |
| ENST00000489314.1:n.359+32419C>G | ||
| NM_032552.3:c.41-47633C>G | NP_115941.2:n.41-47633C>G | |
| XM_005251721.1:c.41-47633C>G | XP_005251778.1:n.41-47633C>G | |
| XM_011518264.1:c.103+32419C>G | XP_011516566.1:n.103+32419C>G | |
| XM_011518265.1:c.103+32419C>G | XP_011516567.1:n.103+32419C>G | |
| XM_011518266.1:c.103+32419C>G | XP_011516568.1:n.103+32419C>G | |
| XM_011518267.1:c.103+32419C>G | XP_011516569.1:n.103+32419C>G | |
| XM_011518268.1:c.103+32419C>G | XP_011516570.1:n.103+32419C>G | |
| XM_011518264.3:c.103+32419C>G | XP_011516566.1:n.103+32419C>G | |
| XM_011518265.3:c.103+32419C>G | XP_011516567.1:n.103+32419C>G | |
| XM_011518266.2:c.103+32419C>G | XP_011516568.1:n.103+32419C>G | |
| XM_011518267.2:c.103+32419C>G | XP_011516569.1:n.103+32419C>G | |
| XM_024447418.1:c.-69+31279C>G | XP_024303186.1:n.-69+31279C>G | |
| NM_032552.4:c.41-47633C>G | NP_115941.2:n.41-47633C>G |