Linked Data
ClinVar Variation Id:
68432
ClinVar RCV Id:
RCV000059302
RCV000157057
RCV000406556
RCV000415457
RCV000755049
RCV000653331
RCV000679889
RCV002273953
RCV003152591
RCV002311540
dbSNP Id:
rs121908247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13235693C>T , CM000681.2:g.13235693C>T | GRCh38 |
| NC_000019.9:g.13346507C>T , CM000681.1:g.13346507C>T | GRCh37 |
| NC_000019.8:g.13207507C>T | NCBI36 |
| NG_011569.1:g.275768G>A , LRG_7:g.275768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4988G>A MANE Select | ENSP00000353362.5:p.Arg1663Gln | |
| ENST00000573710.7:c.4994G>A | ENSP00000460092.3:p.Arg1665Gln | |
| ENST00000573891.6:c.407G>A | ||
| ENST00000574822.6:n.212G>A | ||
| ENST00000585802.6:c.149G>A | ENSP00000465598.2:p.Arg50Gln | |
| ENST00000593267.2:n.193G>A | ||
| ENST00000635727.1:c.4991G>A | ENSP00000490001.1:p.Arg1664Gln | |
| ENST00000635742.1:n.977G>A | ||
| ENST00000635895.1:c.4991G>A | ENSP00000490323.1:p.Arg1664Gln | |
| ENST00000636012.1:c.4991G>A | ENSP00000490223.1:p.Arg1664Gln | |
| ENST00000636058.1:c.303G>A | ||
| ENST00000636389.1:c.4991G>A | ENSP00000489992.1:p.Arg1664Gln | |
| ENST00000636473.1:c.149G>A | ENSP00000490173.1:p.Arg50Gln | |
| ENST00000636549.1:c.4997G>A | ENSP00000490578.1:p.Arg1666Gln | |
| ENST00000637276.1:c.4991G>A | ENSP00000489777.1:p.Arg1664Gln | |
| ENST00000637297.1:c.284G>A | ENSP00000489692.1:p.Arg95Gln | |
| ENST00000637432.1:c.5006G>A | ENSP00000490617.1:p.Arg1669Gln | |
| ENST00000637736.1:c.4850G>A | ENSP00000489861.1:p.Arg1617Gln | |
| ENST00000637769.1:c.4991G>A | ENSP00000489778.1:p.Arg1664Gln | |
| ENST00000637777.1:c.248G>A | ||
| ENST00000637809.1:n.381G>A | ||
| ENST00000637819.1:c.392G>A | ENSP00000490686.1:p.Arg131Gln | |
| ENST00000637927.1:c.4994G>A | ENSP00000489715.1:p.Arg1665Gln | |
| ENST00000638009.2:c.4991G>A | ENSP00000489913.1:p.Arg1664Gln | |
| ENST00000638029.1:c.5006G>A | ENSP00000489829.1:p.Arg1669Gln | |
| ENST00000664864.1:c.5192G>A | ENSP00000499449.1:p.Arg1731Gln | |
| ENST00000360228.9:c.4988G>A | ENSP00000353362.5:p.Arg1663Gln | |
| ENST00000573710.6:c.4991G>A | ENSP00000460092.2:p.Arg1664Gln | |
| ENST00000573891.5:c.407G>A | ||
| ENST00000574822.5:n.212G>A | ||
| ENST00000585802.5:c.1046G>A | ENSP00000465598.1:p.Arg349Gln | |
| ENST00000587525.5:c.449G>A | ENSP00000467729.1:p.Arg150Gln | |
| ENST00000593267.1:n.193G>A | ||
| ENST00000614285.4:c.5006G>A | ENSP00000479983.1:p.Arg1669Gln | |
| NM_000068.3:c.5006G>A | NP_000059.3:p.Arg1669Gln | |
| NM_001127221.1:c.4991G>A , LRG_7t1:c.4991G>A | NP_001120693.1:p.Arg1664Gln | |
| NM_001127222.1:c.4988G>A | NP_001120694.1:p.Arg1663Gln | |
| NM_001174080.1:c.4997G>A | NP_001167551.1:p.Arg1666Gln | |
| NM_023035.2:c.5006G>A | NP_075461.2:p.Arg1669Gln | |
| NM_000068.4:c.5006G>A | NP_000059.3:p.Arg1669Gln | |
| NM_001127222.2:c.4988G>A MANE Select | NP_001120694.1:p.Arg1663Gln | |
| NM_001174080.2:c.4997G>A | NP_001167551.1:p.Arg1666Gln | |
| NM_023035.3:c.5006G>A | NP_075461.2:p.Arg1669Gln | |
| NM_001127221.2:c.4991G>A | NP_001120693.1:p.Arg1664Gln |