Linked Data
ClinVar Variation Id:
422445
dbSNP Id:
rs771636070
ExAC:
19:13325386 C / T
gnomAD v2:
19-13325386-C-T
gnomAD v3:
19-13214572-C-T
gnomAD v4:
19-13214572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13214572C>T , CM000681.2:g.13214572C>T | GRCh38 |
| NC_000019.9:g.13325386C>T , CM000681.1:g.13325386C>T | GRCh37 |
| NC_000019.8:g.13186386C>T | NCBI36 |
| NG_011569.1:g.296889G>A , LRG_7:g.296889G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5768G>A MANE Select | ENSP00000353362.5:p.Arg1923Gln | |
| ENST00000573710.7:c.5774G>A | ENSP00000460092.3:p.Arg1925Gln | |
| ENST00000585802.6:c.929G>A | ENSP00000465598.2:p.Arg310Gln | |
| ENST00000635727.1:c.5771G>A | ENSP00000490001.1:p.Arg1924Gln | |
| ENST00000635895.1:c.5771G>A | ENSP00000490323.1:p.Arg1924Gln | |
| ENST00000635988.1:n.1926G>A | ||
| ENST00000636012.1:c.5771G>A | ENSP00000490223.1:p.Arg1924Gln | |
| ENST00000636074.1:n.663G>A | ||
| ENST00000636389.1:c.5771G>A | ENSP00000489992.1:p.Arg1924Gln | |
| ENST00000636473.1:c.638G>A | ENSP00000490173.1:p.Arg213Gln | |
| ENST00000636549.1:c.5777G>A | ENSP00000490578.1:p.Arg1926Gln | |
| ENST00000636610.1:n.685G>A | ||
| ENST00000636768.1:c.298G>A | ENSP00000490190.1:n.298G>A | |
| ENST00000637276.1:c.5771G>A | ENSP00000489777.1:p.Arg1924Gln | |
| ENST00000637432.1:c.5786G>A | ENSP00000490617.1:p.Arg1929Gln | |
| ENST00000637736.1:c.5630G>A | ENSP00000489861.1:p.Arg1877Gln | |
| ENST00000637769.1:c.5771G>A | ENSP00000489778.1:p.Arg1924Gln | |
| ENST00000637819.1:c.1172G>A | ENSP00000490686.1:p.Arg391Gln | |
| ENST00000637927.1:c.5774G>A | ENSP00000489715.1:p.Arg1925Gln | |
| ENST00000638009.2:c.5771G>A | ENSP00000489913.1:p.Arg1924Gln | |
| ENST00000638029.1:c.5786G>A | ENSP00000489829.1:p.Arg1929Gln | |
| ENST00000664864.1:c.5972G>A | ENSP00000499449.1:p.Arg1991Gln | |
| ENST00000360228.9:c.5768G>A | ENSP00000353362.5:p.Arg1923Gln | |
| ENST00000573710.6:c.5771G>A | ENSP00000460092.2:p.Arg1924Gln | |
| ENST00000585802.5:c.1826G>A | ENSP00000465598.1:p.Arg609Gln | |
| ENST00000586190.1:n.327G>A | ||
| ENST00000587525.5:c.1229G>A | ENSP00000467729.1:p.Arg410Gln | |
| ENST00000614285.4:c.5786G>A | ENSP00000479983.1:p.Arg1929Gln | |
| NM_000068.3:c.5786G>A | NP_000059.3:p.Arg1929Gln | |
| NM_001127221.1:c.5771G>A , LRG_7t1:c.5771G>A | NP_001120693.1:p.Arg1924Gln | |
| NM_001127222.1:c.5768G>A | NP_001120694.1:p.Arg1923Gln | |
| NM_001174080.1:c.5777G>A | NP_001167551.1:p.Arg1926Gln | |
| NM_023035.2:c.5786G>A | NP_075461.2:p.Arg1929Gln | |
| NM_000068.4:c.5786G>A | NP_000059.3:p.Arg1929Gln | |
| NM_001127222.2:c.5768G>A MANE Select | NP_001120694.1:p.Arg1923Gln | |
| NM_001174080.2:c.5777G>A | NP_001167551.1:p.Arg1926Gln | |
| NM_023035.3:c.5786G>A | NP_075461.2:p.Arg1929Gln | |
| NM_001127221.2:c.5771G>A | NP_001120693.1:p.Arg1924Gln |