Linked Data
ClinVar Variation Id:
1342955
ClinVar RCV Id:
RCV001843405
dbSNP Id:
rs760640415
ExAC:
12:121432086 G / A
gnomAD v2:
12-121432086-G-A
gnomAD v4:
12-120994283-G-A
ERepo:
CA6831838/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994283G>A , CM000674.2:g.120994283G>A | GRCh38 |
| NC_000012.11:g.121432086G>A , CM000674.1:g.121432086G>A | GRCh37 |
| NC_000012.10:g.119916469G>A | NCBI36 |
| NG_011731.2:g.20538G>A , LRG_522:g.20538G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+83G>A | ENSP00000453965.2:n.750+83G>A | |
| ENST00000257555.11:c.833G>A MANE Select | ENSP00000257555.5:p.Arg278Gln | |
| ENST00000257555.10:c.833G>A | ENSP00000257555.4:p.Arg278Gln | |
| ENST00000400024.6:c.833G>A | ENSP00000476181.1:p.Arg278Gln | |
| ENST00000402929.5:n.968G>A | ||
| ENST00000535955.5:n.43-3208G>A | ||
| ENST00000538626.2:n.191-3208G>A | ||
| ENST00000538646.5:c.646G>A | ENSP00000443964.1:p.Gly216Ser | |
| ENST00000540108.1:c.*273G>A | ENSP00000445445.1:n.*273G>A | |
| ENST00000541395.5:c.833G>A | ENSP00000443112.1:p.Arg278Gln | |
| ENST00000541924.5:c.713+577G>A | ENSP00000440361.1:n.713+577G>A | |
| ENST00000543427.5:c.633+657G>A | ENSP00000439721.2:n.633+657G>A | |
| ENST00000544413.2:c.833G>A | ENSP00000438804.1:p.Arg278Gln | |
| ENST00000544574.5:c.73-2334G>A | ENSP00000438565.1:n.73-2334G>A | |
| ENST00000560968.5:c.893+83G>A | ||
| ENST00000615446.4:c.-257-1979G>A | ENSP00000483994.1:n.-257-1979G>A | |
| ENST00000617366.4:c.586+704G>A | ENSP00000481967.1:n.586+704G>A | |
| NM_000545.5:c.833G>A , LRG_522t1:c.833G>A | NP_000536.5:p.Arg278Gln | |
| NM_000545.6:c.833G>A | NP_000536.5:p.Arg278Gln | |
| NM_001306179.1:c.833G>A | NP_001293108.1:p.Arg278Gln | |
| XM_005253931.2:c.833G>A | XP_005253988.1:p.Arg278Gln | |
| XM_024449168.1:c.833G>A | XP_024304936.1:p.Arg278Gln | |
| NM_000545.8:c.833G>A MANE Select | NP_000536.6:p.Arg278Gln | |
| NM_001306179.2:c.833G>A | NP_001293108.2:p.Arg278Gln |