Linked Data
ClinVar Variation Id:
421775
dbSNP Id:
rs779063280
ExAC:
19:13319590 C / G
gnomAD v2:
19-13319590-C-G
gnomAD v3:
19-13208776-C-G
gnomAD v4:
19-13208776-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13208776C>G , CM000681.2:g.13208776C>G | GRCh38 |
| NC_000019.9:g.13319590C>G , CM000681.1:g.13319590C>G | GRCh37 |
| NC_000019.8:g.13180590C>G | NCBI36 |
| NG_011569.1:g.302685G>C , LRG_7:g.302685G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6760G>C MANE Select | ENSP00000353362.5:p.Glu2254Gln | |
| ENST00000573710.7:c.6766G>C | ENSP00000460092.3:p.Glu2256Gln | |
| ENST00000585802.6:c.1885G>C | ENSP00000465598.2:p.Glu629Gln | |
| ENST00000635727.1:c.6763G>C | ENSP00000490001.1:p.Glu2255Gln | |
| ENST00000635895.1:c.6763G>C | ENSP00000490323.1:p.Glu2255Gln | |
| ENST00000636012.1:c.6727G>C | ENSP00000490223.1:p.Glu2243Gln | |
| ENST00000636389.1:c.6763G>C | ENSP00000489992.1:p.Glu2255Gln | |
| ENST00000636473.1:c.1630G>C | ENSP00000490173.1:p.Glu544Gln | |
| ENST00000636549.1:c.6769G>C | ENSP00000490578.1:p.Glu2257Gln | |
| ENST00000637276.1:c.6727G>C | ENSP00000489777.1:p.Glu2243Gln | |
| ENST00000637432.1:c.6778G>C | ENSP00000490617.1:p.Glu2260Gln | |
| ENST00000637736.1:c.6622G>C | ENSP00000489861.1:p.Glu2208Gln | |
| ENST00000637769.1:c.6763G>C | ENSP00000489778.1:p.Glu2255Gln | |
| ENST00000637927.1:c.6766G>C | ENSP00000489715.1:p.Glu2256Gln | |
| ENST00000638009.2:c.6763G>C | ENSP00000489913.1:p.Glu2255Gln | |
| ENST00000638029.1:c.6778G>C | ENSP00000489829.1:p.Glu2260Gln | |
| ENST00000664864.1:c.6964G>C | ENSP00000499449.1:p.Glu2322Gln | |
| ENST00000360228.9:c.6760G>C | ENSP00000353362.5:p.Glu2254Gln | |
| ENST00000573710.6:c.6763G>C | ENSP00000460092.2:p.Glu2255Gln | |
| ENST00000585802.5:c.2782G>C | ENSP00000465598.1:p.Glu928Gln | |
| ENST00000587525.5:c.2185G>C | ENSP00000467729.1:p.Glu729Gln | |
| ENST00000614285.4:c.6778G>C | ENSP00000479983.1:p.Glu2260Gln | |
| NM_000068.3:c.6778G>C | NP_000059.3:p.Glu2260Gln | |
| NM_001127221.1:c.6763G>C , LRG_7t1:c.6763G>C | NP_001120693.1:p.Glu2255Gln | |
| NM_001127222.1:c.6760G>C | NP_001120694.1:p.Glu2254Gln | |
| NM_001174080.1:c.6769G>C | NP_001167551.1:p.Glu2257Gln | |
| NM_023035.2:c.6778G>C | NP_075461.2:p.Glu2260Gln | |
| NM_000068.4:c.6778G>C | NP_000059.3:p.Glu2260Gln | |
| NM_001127222.2:c.6760G>C MANE Select | NP_001120694.1:p.Glu2254Gln | |
| NM_001174080.2:c.6769G>C | NP_001167551.1:p.Glu2257Gln | |
| NM_023035.3:c.6778G>C | NP_075461.2:p.Glu2260Gln | |
| NM_001127221.2:c.6763G>C | NP_001120693.1:p.Glu2255Gln |