gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0581652 (NFE)
Genomes Max Group AF
0.0581652 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37325592G>A , CM000669.2:g.37325592G>A | GRCh38 |
| NC_000007.13:g.37365196G>A , CM000669.1:g.37365196G>A | GRCh37 |
| NC_000007.12:g.37331721G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310758.9:c.79-9632C>T MANE Select | ENSP00000312185.4:n.79-9632C>T | |
| ENST00000310758.8:c.79-9632C>T | ENSP00000312185.4:n.79-9632C>T | |
| ENST00000442504.5:c.79-9632C>T | ENSP00000406952.1:n.79-9632C>T | |
| ENST00000445322.1:c.79-9632C>T | ENSP00000397857.1:n.79-9632C>T | |
| ENST00000448602.5:c.79-9632C>T | ENSP00000394458.1:n.79-9632C>T | |
| ENST00000453399.5:c.79-9632C>T | ENSP00000391734.1:n.79-9632C>T | |
| ENST00000455119.5:c.79-9632C>T | ENSP00000406610.1:n.79-9632C>T | |
| ENST00000455879.5:c.79-9632C>T | ENSP00000416090.1:n.79-9632C>T | |
| ENST00000463390.1:n.334-9632C>T | ||
| NM_001206480.2:c.79-9632C>T | NP_001193409.1:n.79-9632C>T | |
| NM_001206482.1:c.79-9632C>T | NP_001193411.1:n.79-9632C>T | |
| NM_014800.10:c.79-9632C>T | NP_055615.8:n.79-9632C>T | |
| XM_005249919.1:c.79-9632C>T | XP_005249976.1:n.79-9632C>T | |
| XM_006715805.1:c.79-9632C>T | XP_006715868.1:n.79-9632C>T | |
| XM_011515654.1:c.79-9632C>T | XP_011513956.1:n.79-9632C>T | |
| XM_011515655.1:c.79-9632C>T | XP_011513957.1:n.79-9632C>T | |
| XM_005249919.3:c.79-9632C>T | XP_005249976.1:n.79-9632C>T | |
| XM_011515654.2:c.79-9632C>T | XP_011513956.1:n.79-9632C>T | |
| XM_017012839.1:c.79-9632C>T | XP_016868328.1:n.79-9632C>T | |
| XM_024447008.1:c.79-9632C>T | XP_024302776.1:n.79-9632C>T | |
| XR_001744894.2:n.428-9632C>T | ||
| NM_001206482.2:c.79-9632C>T | NP_001193411.1:n.79-9632C>T | |
| NM_014800.11:c.79-9632C>T MANE Select | NP_055615.8:n.79-9632C>T |