Linked Data
ClinVar Variation Id:
40452
ClinVar RCV Id:
RCV000157946
RCV000150893
RCV000157667
RCV000506533
RCV000576784
RCV001095664
RCV001253410
RCV003224112
dbSNP Id:
rs727503110
ERepo:
CA235299/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25245320T>C , CM000674.2:g.25245320T>C | GRCh38 |
| NC_000012.11:g.25398254T>C , CM000674.1:g.25398254T>C | GRCh37 |
| NC_000012.10:g.25289521T>C | NCBI36 |
| NG_007524.1:g.10601A>G | |
| NG_007524.2:g.10684A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556131.2:c.65A>G | ENSP00000451856.1:p.Gln22Arg | |
| ENST00000557334.6:c.65A>G | ENSP00000452512.1:p.Gln22Arg | |
| ENST00000685328.1:c.65A>G | ENSP00000508921.1:p.Gln22Arg | |
| ENST00000686877.1:c.65A>G | ENSP00000510431.1:p.Gln22Arg | |
| ENST00000686969.1:c.65A>G | ENSP00000510479.1:p.Gln22Arg | |
| ENST00000687356.1:c.65A>G | ENSP00000510511.1:p.Gln22Arg | |
| ENST00000688940.1:c.65A>G | ENSP00000509238.1:p.Gln22Arg | |
| ENST00000690804.1:c.65A>G | ENSP00000508568.1:p.Gln22Arg | |
| ENST00000692768.1:c.-88+5431A>G | ENSP00000510254.1:n.-88+5431A>G | |
| ENST00000693229.1:c.65A>G | ENSP00000509223.1:p.Gln22Arg | |
| ENST00000256078.10:c.65A>G MANE Plus Clinical | ENSP00000256078.5:p.Gln22Arg | |
| ENST00000311936.8:c.65A>G MANE Select | ENSP00000308495.3:p.Gln22Arg | |
| ENST00000256078.8:c.65A>G | ENSP00000256078.4:p.Gln22Arg | |
| ENST00000311936.7:c.65A>G | ENSP00000308495.3:p.Gln22Arg | |
| ENST00000556131.1:c.65A>G | ENSP00000451856.1:p.Gln22Arg | |
| ENST00000557334.5:c.65A>G | ENSP00000452512.1:p.Gln22Arg | |
| NM_004985.4:c.65A>G | NP_004976.2:p.Gln22Arg | |
| NM_033360.3:c.65A>G | NP_203524.1:p.Gln22Arg | |
| XM_006719069.2:c.65A>G | XP_006719132.1:p.Gln22Arg | |
| XM_011520653.1:c.65A>G | XP_011518955.1:p.Gln22Arg | |
| XM_006719069.4:c.65A>G | XP_006719132.1:p.Gln22Arg | |
| XM_011520653.3:c.65A>G | XP_011518955.1:p.Gln22Arg | |
| NM_001369786.1:c.65A>G | NP_001356715.1:p.Gln22Arg | |
| NM_001369787.1:c.65A>G | NP_001356716.1:p.Gln22Arg | |
| NM_004985.5:c.65A>G MANE Select | NP_004976.2:p.Gln22Arg | |
| NM_033360.4:c.65A>G MANE Plus Clinical | NP_203524.1:p.Gln22Arg |