gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237362251C>A , CM000664.2:g.237362251C>A | GRCh38 |
| NC_000002.11:g.238270894C>A , CM000664.1:g.238270894C>A | GRCh37 |
| NC_000002.10:g.237935633C>A | NCBI36 |
| NG_008676.1:g.56957G>T , LRG_473:g.56957G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5446-420G>T | ENSP00000315873.4:n.5446-420G>T | |
| ENST00000295550.9:c.6064-420G>T MANE Select | ENSP00000295550.4:n.6064-420G>T | |
| ENST00000295550.8:c.6064-420G>T | ENSP00000295550.4:n.6064-420G>T | |
| ENST00000347401.7:c.4243-420G>T | ENSP00000315609.4:n.4243-420G>T | |
| ENST00000353578.8:c.5446-420G>T | ENSP00000315873.4:n.5446-420G>T | |
| ENST00000409809.5:c.5446-420G>T | ENSP00000386844.1:n.5446-420G>T | |
| ENST00000472056.5:c.4243-420G>T | ENSP00000418285.1:n.4243-420G>T | |
| NM_004369.3:c.6064-420G>T , LRG_473t1:c.6064-420G>T | NP_004360.2:n.6064-420G>T | |
| NM_057166.4:c.4243-420G>T | NP_476507.3:n.4243-420G>T | |
| NM_057167.3:c.5446-420G>T | NP_476508.2:n.5446-420G>T | |
| XM_005246065.1:c.5464-420G>T | XP_005246122.1:n.5464-420G>T | |
| XM_005246066.1:c.4843-420G>T | XP_005246123.1:n.4843-420G>T | |
| XM_006712253.1:c.5563-420G>T | XP_006712316.1:n.5563-420G>T | |
| XM_011510574.1:c.6061-420G>T | XP_011508876.1:n.6061-420G>T | |
| XM_011510575.1:c.3658-420G>T | XP_011508877.1:n.3658-420G>T | |
| XM_017003304.1:c.3658-420G>T | XP_016858793.1:n.3658-420G>T | |
| XM_024452684.1:c.4843-420G>T | XP_024308452.1:n.4843-420G>T | |
| NM_004369.4:c.6064-420G>T MANE Select | NP_004360.2:n.6064-420G>T | |
| NM_057166.5:c.4243-420G>T | NP_476507.3:n.4243-420G>T | |
| NM_057167.4:c.5446-420G>T | NP_476508.2:n.5446-420G>T |