Linked Data
ClinVar Variation Id:
283175
dbSNP Id:
rs555959123
ExAC:
19:13370476 C / A
gnomAD v2:
19-13370476-C-A
gnomAD v3:
19-13259662-C-A
gnomAD v4:
19-13259662-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13259662C>A , CM000681.2:g.13259662C>A | GRCh38 |
| NC_000019.9:g.13370476C>A , CM000681.1:g.13370476C>A | GRCh37 |
| NC_000019.8:g.13231476C>A | NCBI36 |
| NG_011569.1:g.251799G>T , LRG_7:g.251799G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4290G>T MANE Select | ENSP00000353362.5:p.Ala1430= | |
| ENST00000573710.7:c.4296G>T | ENSP00000460092.3:p.Ala1432= | |
| ENST00000590205.2:n.3044G>T | ||
| ENST00000635727.1:c.4293G>T | ENSP00000490001.1:p.Ala1431= | |
| ENST00000635742.1:n.279G>T | ||
| ENST00000635895.1:c.4293G>T | ENSP00000490323.1:p.Ala1431= | |
| ENST00000635917.1:n.782G>T | ||
| ENST00000636012.1:c.4293G>T | ENSP00000490223.1:p.Ala1431= | |
| ENST00000636389.1:c.4293G>T | ENSP00000489992.1:p.Ala1431= | |
| ENST00000636549.1:c.4293G>T | ENSP00000490578.1:p.Ala1431= | |
| ENST00000636816.1:n.978G>T | ||
| ENST00000636984.1:n.573G>T | ||
| ENST00000637004.1:n.756G>T | ||
| ENST00000637276.1:c.4293G>T | ENSP00000489777.1:p.Ala1431= | |
| ENST00000637432.1:c.4302G>T | ENSP00000490617.1:p.Ala1434= | |
| ENST00000637692.1:n.612G>T | ||
| ENST00000637736.1:c.4152G>T | ENSP00000489861.1:p.Ala1384= | |
| ENST00000637769.1:c.4293G>T | ENSP00000489778.1:p.Ala1431= | |
| ENST00000637927.1:c.4296G>T | ENSP00000489715.1:p.Ala1432= | |
| ENST00000638009.2:c.4293G>T | ENSP00000489913.1:p.Ala1431= | |
| ENST00000638029.1:c.4302G>T | ENSP00000489829.1:p.Ala1434= | |
| ENST00000664864.1:c.4488G>T | ENSP00000499449.1:p.Ala1496= | |
| ENST00000360228.9:c.4290G>T | ENSP00000353362.5:p.Ala1430= | |
| ENST00000573710.6:c.4293G>T | ENSP00000460092.2:p.Ala1431= | |
| ENST00000585802.5:c.348G>T | ENSP00000465598.1:p.Ala116= | |
| ENST00000614285.4:c.4302G>T | ENSP00000479983.1:p.Ala1434= | |
| NM_000068.3:c.4302G>T | NP_000059.3:p.Ala1434= | |
| NM_001127221.1:c.4293G>T , LRG_7t1:c.4293G>T | NP_001120693.1:p.Ala1431= | |
| NM_001127222.1:c.4290G>T | NP_001120694.1:p.Ala1430= | |
| NM_001174080.1:c.4293G>T | NP_001167551.1:p.Ala1431= | |
| NM_023035.2:c.4302G>T | NP_075461.2:p.Ala1434= | |
| NM_000068.4:c.4302G>T | NP_000059.3:p.Ala1434= | |
| NM_001127222.2:c.4290G>T MANE Select | NP_001120694.1:p.Ala1430= | |
| NM_001174080.2:c.4293G>T | NP_001167551.1:p.Ala1431= | |
| NM_023035.3:c.4302G>T | NP_075461.2:p.Ala1434= | |
| NM_001127221.2:c.4293G>T | NP_001120693.1:p.Ala1431= |