Linked Data
ClinVar Variation Id:
283174
dbSNP Id:
rs369033909
ExAC:
19:13346013 C / T
gnomAD v2:
19-13346013-C-T
gnomAD v3:
19-13235199-C-T
gnomAD v4:
19-13235199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13235199C>T , CM000681.2:g.13235199C>T | GRCh38 |
| NC_000019.9:g.13346013C>T , CM000681.1:g.13346013C>T | GRCh37 |
| NC_000019.8:g.13207013C>T | NCBI36 |
| NG_011569.1:g.276262G>A , LRG_7:g.276262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5133+10G>A MANE Select | ENSP00000353362.5:n.5133+10G>A | |
| ENST00000573710.7:c.5139+10G>A | ENSP00000460092.3:n.5139+10G>A | |
| ENST00000573891.6:c.552+10G>A | ||
| ENST00000574822.6:n.357+10G>A | ||
| ENST00000585802.6:c.294+10G>A | ENSP00000465598.2:n.294+10G>A | |
| ENST00000593267.2:n.338+10G>A | ||
| ENST00000635727.1:c.5136+10G>A | ENSP00000490001.1:n.5136+10G>A | |
| ENST00000635742.1:n.1122+10G>A | ||
| ENST00000635895.1:c.5136+10G>A | ENSP00000490323.1:n.5136+10G>A | |
| ENST00000636012.1:c.5136+10G>A | ENSP00000490223.1:n.5136+10G>A | |
| ENST00000636058.1:c.448+10G>A | ||
| ENST00000636389.1:c.5136+10G>A | ENSP00000489992.1:n.5136+10G>A | |
| ENST00000636473.1:c.229-163G>A | ENSP00000490173.1:n.229-163G>A | |
| ENST00000636549.1:c.5142+10G>A | ENSP00000490578.1:n.5142+10G>A | |
| ENST00000637276.1:c.5136+10G>A | ENSP00000489777.1:n.5136+10G>A | |
| ENST00000637297.1:c.429+10G>A | ENSP00000489692.1:n.429+10G>A | |
| ENST00000637432.1:c.5151+10G>A | ENSP00000490617.1:n.5151+10G>A | |
| ENST00000637736.1:c.4995+10G>A | ENSP00000489861.1:n.4995+10G>A | |
| ENST00000637769.1:c.5136+10G>A | ENSP00000489778.1:n.5136+10G>A | |
| ENST00000637777.1:c.328-163G>A | ||
| ENST00000637809.1:n.526+10G>A | ||
| ENST00000637819.1:c.537+10G>A | ENSP00000490686.1:n.537+10G>A | |
| ENST00000637832.1:n.127+10G>A | ||
| ENST00000637927.1:c.5139+10G>A | ENSP00000489715.1:n.5139+10G>A | |
| ENST00000638009.2:c.5136+10G>A | ENSP00000489913.1:n.5136+10G>A | |
| ENST00000638029.1:c.5151+10G>A | ENSP00000489829.1:n.5151+10G>A | |
| ENST00000664864.1:c.5337+10G>A | ENSP00000499449.1:n.5337+10G>A | |
| ENST00000360228.9:c.5133+10G>A | ENSP00000353362.5:n.5133+10G>A | |
| ENST00000573710.6:c.5136+10G>A | ENSP00000460092.2:n.5136+10G>A | |
| ENST00000573891.5:c.552+10G>A | ||
| ENST00000574822.5:n.357+10G>A | ||
| ENST00000585802.5:c.1191+10G>A | ENSP00000465598.1:n.1191+10G>A | |
| ENST00000587525.5:c.594+10G>A | ENSP00000467729.1:n.594+10G>A | |
| ENST00000593267.1:n.338+10G>A | ||
| ENST00000614285.4:c.5151+10G>A | ENSP00000479983.1:n.5151+10G>A | |
| NM_000068.3:c.5151+10G>A | NP_000059.3:n.5151+10G>A | |
| NM_001127221.1:c.5136+10G>A , LRG_7t1:c.5136+10G>A | NP_001120693.1:n.5136+10G>A | |
| NM_001127222.1:c.5133+10G>A | NP_001120694.1:n.5133+10G>A | |
| NM_001174080.1:c.5142+10G>A | NP_001167551.1:n.5142+10G>A | |
| NM_023035.2:c.5151+10G>A | NP_075461.2:n.5151+10G>A | |
| NM_000068.4:c.5151+10G>A | NP_000059.3:n.5151+10G>A | |
| NM_001127222.2:c.5133+10G>A MANE Select | NP_001120694.1:n.5133+10G>A | |
| NM_001174080.2:c.5142+10G>A | NP_001167551.1:n.5142+10G>A | |
| NM_023035.3:c.5151+10G>A | NP_075461.2:n.5151+10G>A | |
| NM_001127221.2:c.5136+10G>A | NP_001120693.1:n.5136+10G>A |