Linked Data
ClinVar Variation Id:
387551
dbSNP Id:
rs16032
ExAC:
19:13366082 G / C
gnomAD v2:
19-13366082-G-C
gnomAD v3:
19-13255268-G-C
gnomAD v4:
19-13255268-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13255268G>C , CM000681.2:g.13255268G>C | GRCh38 |
| NC_000019.9:g.13366082G>C , CM000681.1:g.13366082G>C | GRCh37 |
| NC_000019.8:g.13227082G>C | NCBI36 |
| NG_011569.1:g.256193C>G , LRG_7:g.256193C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.4591-9C>G MANE Select | ENSP00000353362.5:n.4591-9C>G | |
| ENST00000573710.7:c.4597-9C>G | ENSP00000460092.3:n.4597-9C>G | |
| ENST00000635727.1:c.4594-9C>G | ENSP00000490001.1:n.4594-9C>G | |
| ENST00000635742.1:n.580-9C>G | ||
| ENST00000635895.1:c.4594-9C>G | ENSP00000490323.1:n.4594-9C>G | |
| ENST00000635917.1:n.1083-9C>G | ||
| ENST00000636012.1:c.4594-9C>G | ENSP00000490223.1:n.4594-9C>G | |
| ENST00000636389.1:c.4594-9C>G | ENSP00000489992.1:n.4594-9C>G | |
| ENST00000636549.1:c.4594-9C>G | ENSP00000490578.1:n.4594-9C>G | |
| ENST00000636816.1:n.1279-9C>G | ||
| ENST00000637004.1:n.1057-9C>G | ||
| ENST00000637276.1:c.4594-9C>G | ENSP00000489777.1:n.4594-9C>G | |
| ENST00000637297.1:c.246+2082C>G | ENSP00000489692.1:n.246+2082C>G | |
| ENST00000637432.1:c.4603-9C>G | ENSP00000490617.1:n.4603-9C>G | |
| ENST00000637692.1:n.913-9C>G | ||
| ENST00000637736.1:c.4453-9C>G | ENSP00000489861.1:n.4453-9C>G | |
| ENST00000637769.1:c.4594-9C>G | ENSP00000489778.1:n.4594-9C>G | |
| ENST00000637927.1:c.4597-9C>G | ENSP00000489715.1:n.4597-9C>G | |
| ENST00000638009.2:c.4594-9C>G | ENSP00000489913.1:n.4594-9C>G | |
| ENST00000638029.1:c.4603-9C>G | ENSP00000489829.1:n.4603-9C>G | |
| ENST00000664864.1:c.4789-9C>G | ENSP00000499449.1:n.4789-9C>G | |
| ENST00000360228.9:c.4591-9C>G | ENSP00000353362.5:n.4591-9C>G | |
| ENST00000573710.6:c.4594-9C>G | ENSP00000460092.2:n.4594-9C>G | |
| ENST00000585802.5:c.649-9C>G | ENSP00000465598.1:n.649-9C>G | |
| ENST00000587525.5:c.52-9C>G | ENSP00000467729.1:n.52-9C>G | |
| ENST00000614285.4:c.4603-9C>G | ENSP00000479983.1:n.4603-9C>G | |
| NM_000068.3:c.4603-9C>G | NP_000059.3:n.4603-9C>G | |
| NM_001127221.1:c.4594-9C>G , LRG_7t1:c.4594-9C>G | NP_001120693.1:n.4594-9C>G | |
| NM_001127222.1:c.4591-9C>G | NP_001120694.1:n.4591-9C>G | |
| NM_001174080.1:c.4594-9C>G | NP_001167551.1:n.4594-9C>G | |
| NM_023035.2:c.4603-9C>G | NP_075461.2:n.4603-9C>G | |
| NM_000068.4:c.4603-9C>G | NP_000059.3:n.4603-9C>G | |
| NM_001127222.2:c.4591-9C>G MANE Select | NP_001120694.1:n.4591-9C>G | |
| NM_001174080.2:c.4594-9C>G | NP_001167551.1:n.4594-9C>G | |
| NM_023035.3:c.4603-9C>G | NP_075461.2:n.4603-9C>G | |
| NM_001127221.2:c.4594-9C>G | NP_001120693.1:n.4594-9C>G |