Linked Data
ClinVar Variation Id:
497993
dbSNP Id:
rs188863534
ExAC:
19:13340973 G / A
gnomAD v2:
19-13340973-G-A
gnomAD v3:
19-13230159-G-A
gnomAD v4:
19-13230159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13230159G>A , CM000681.2:g.13230159G>A | GRCh38 |
| NC_000019.9:g.13340973G>A , CM000681.1:g.13340973G>A | GRCh37 |
| NC_000019.8:g.13201973G>A | NCBI36 |
| NG_011569.1:g.281302C>T , LRG_7:g.281302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5451C>T MANE Select | ENSP00000353362.5:p.Thr1817= | |
| ENST00000573710.7:c.5457C>T | ENSP00000460092.3:p.Thr1819= | |
| ENST00000573891.6:c.870C>T | ||
| ENST00000574822.6:n.675C>T | ||
| ENST00000585802.6:c.612C>T | ENSP00000465598.2:p.Thr204= | |
| ENST00000635727.1:c.5454C>T | ENSP00000490001.1:p.Thr1818= | |
| ENST00000635742.1:n.1440C>T | ||
| ENST00000635895.1:c.5454C>T | ENSP00000490323.1:p.Thr1818= | |
| ENST00000636012.1:c.5454C>T | ENSP00000490223.1:p.Thr1818= | |
| ENST00000636389.1:c.5454C>T | ENSP00000489992.1:p.Thr1818= | |
| ENST00000636473.1:c.495+1551C>T | ENSP00000490173.1:n.495+1551C>T | |
| ENST00000636549.1:c.5460C>T | ENSP00000490578.1:p.Thr1820= | |
| ENST00000636768.1:c.78C>T | ENSP00000490190.1:p.Thr26= | |
| ENST00000637276.1:c.5454C>T | ENSP00000489777.1:p.Thr1818= | |
| ENST00000637432.1:c.5469C>T | ENSP00000490617.1:p.Thr1823= | |
| ENST00000637736.1:c.5313C>T | ENSP00000489861.1:p.Thr1771= | |
| ENST00000637769.1:c.5454C>T | ENSP00000489778.1:p.Thr1818= | |
| ENST00000637777.1:c.645C>T | ||
| ENST00000637809.1:n.844C>T | ||
| ENST00000637819.1:c.855C>T | ENSP00000490686.1:p.Thr285= | |
| ENST00000637832.1:n.445C>T | ||
| ENST00000637927.1:c.5457C>T | ENSP00000489715.1:p.Thr1819= | |
| ENST00000638009.2:c.5454C>T | ENSP00000489913.1:p.Thr1818= | |
| ENST00000638029.1:c.5469C>T | ENSP00000489829.1:p.Thr1823= | |
| ENST00000664864.1:c.5655C>T | ENSP00000499449.1:p.Thr1885= | |
| ENST00000360228.9:c.5451C>T | ENSP00000353362.5:p.Thr1817= | |
| ENST00000573710.6:c.5454C>T | ENSP00000460092.2:p.Thr1818= | |
| ENST00000574822.5:n.675C>T | ||
| ENST00000585802.5:c.1509C>T | ENSP00000465598.1:p.Thr503= | |
| ENST00000587525.5:c.912C>T | ENSP00000467729.1:p.Thr304= | |
| ENST00000614285.4:c.5469C>T | ENSP00000479983.1:p.Thr1823= | |
| NM_000068.3:c.5469C>T | NP_000059.3:p.Thr1823= | |
| NM_001127221.1:c.5454C>T , LRG_7t1:c.5454C>T | NP_001120693.1:p.Thr1818= | |
| NM_001127222.1:c.5451C>T | NP_001120694.1:p.Thr1817= | |
| NM_001174080.1:c.5460C>T | NP_001167551.1:p.Thr1820= | |
| NM_023035.2:c.5469C>T | NP_075461.2:p.Thr1823= | |
| NM_000068.4:c.5469C>T | NP_000059.3:p.Thr1823= | |
| NM_001127222.2:c.5451C>T MANE Select | NP_001120694.1:p.Thr1817= | |
| NM_001174080.2:c.5460C>T | NP_001167551.1:p.Thr1820= | |
| NM_023035.3:c.5469C>T | NP_075461.2:p.Thr1823= | |
| NM_001127221.2:c.5454C>T | NP_001120693.1:p.Thr1818= |