Linked Data
ClinVar Variation Id:
129231
dbSNP Id:
rs2464195
ExAC:
12:121435475 G / A
gnomAD v2:
12-121435475-G-A
gnomAD v3:
12-120997672-G-A
gnomAD v4:
12-120997672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997672G>A , CM000674.2:g.120997672G>A | GRCh38 |
| NC_000012.11:g.121435475G>A , CM000674.1:g.121435475G>A | GRCh37 |
| NC_000012.10:g.119919858G>A | NCBI36 |
| NG_011731.2:g.23927G>A , LRG_522:g.23927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*248+7G>A | ENSP00000453965.2:n.*248+7G>A | |
| ENST00000257555.11:c.1501+7G>A MANE Select | ENSP00000257555.5:n.1501+7G>A | |
| ENST00000257555.10:c.1501+7G>A | ENSP00000257555.4:n.1501+7G>A | |
| ENST00000400024.6:c.1508G>A | ENSP00000476181.1:p.Arg503His | |
| ENST00000402929.5:n.2374G>A | ||
| ENST00000535955.5:n.224G>A | ||
| ENST00000538626.2:n.372G>A | ||
| ENST00000538646.5:c.*484G>A | ENSP00000443964.1:n.*484G>A | |
| ENST00000540108.1:c.*941+7G>A | ENSP00000445445.1:n.*941+7G>A | |
| ENST00000541395.5:c.1501+7G>A | ENSP00000443112.1:n.1501+7G>A | |
| ENST00000541924.5:c.*522G>A | ENSP00000440361.1:n.*522G>A | |
| ENST00000543255.1:n.552G>A | ||
| ENST00000543427.5:c.964+7G>A | ENSP00000439721.2:n.964+7G>A | |
| ENST00000544413.2:c.1501+7G>A | ENSP00000438804.1:n.1501+7G>A | |
| ENST00000544574.5:c.*271G>A | ENSP00000438565.1:n.*271G>A | |
| ENST00000560968.5:c.1318+7G>A | ||
| ENST00000615446.4:c.289+7G>A | ENSP00000483994.1:n.289+7G>A | |
| ENST00000617366.4:c.618+7G>A | ENSP00000481967.1:n.618+7G>A | |
| NM_000545.5:c.1501+7G>A , LRG_522t1:c.1501+7G>A | NP_000536.5:n.1501+7G>A | |
| NM_000545.6:c.1501+7G>A | NP_000536.5:n.1501+7G>A | |
| NM_001306179.1:c.1501+7G>A | NP_001293108.1:n.1501+7G>A | |
| XM_005253931.2:c.1501+7G>A | XP_005253988.1:n.1501+7G>A | |
| XM_024449168.1:c.1501+7G>A | XP_024304936.1:n.1501+7G>A | |
| NM_000545.8:c.1501+7G>A MANE Select | NP_000536.6:n.1501+7G>A | |
| NM_001306179.2:c.1501+7G>A | NP_001293108.2:n.1501+7G>A |