Linked Data
ClinVar Variation Id:
287330
dbSNP Id:
rs886043622
gnomAD v2:
19-13342608-C-T
gnomAD v3:
19-13231794-C-T
gnomAD v4:
19-13231794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13231794C>T , CM000681.2:g.13231794C>T | GRCh38 |
| NC_000019.9:g.13342608C>T , CM000681.1:g.13342608C>T | GRCh37 |
| NC_000019.8:g.13203608C>T | NCBI36 |
| NG_011569.1:g.279667G>A , LRG_7:g.279667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5316G>A MANE Select | ENSP00000353362.5:p.Lys1772= | |
| ENST00000573710.7:c.5322G>A | ENSP00000460092.3:p.Lys1774= | |
| ENST00000573891.6:c.735G>A | ||
| ENST00000574822.6:n.540G>A | ||
| ENST00000585802.6:c.477G>A | ENSP00000465598.2:p.Lys159= | |
| ENST00000635727.1:c.5319G>A | ENSP00000490001.1:p.Lys1773= | |
| ENST00000635742.1:n.1305G>A | ||
| ENST00000635895.1:c.5319G>A | ENSP00000490323.1:p.Lys1773= | |
| ENST00000636012.1:c.5319G>A | ENSP00000490223.1:p.Lys1773= | |
| ENST00000636058.1:c.631G>A | ||
| ENST00000636389.1:c.5319G>A | ENSP00000489992.1:p.Lys1773= | |
| ENST00000636473.1:c.411G>A | ENSP00000490173.1:p.Lys137= | |
| ENST00000636549.1:c.5325G>A | ENSP00000490578.1:p.Lys1775= | |
| ENST00000637276.1:c.5319G>A | ENSP00000489777.1:p.Lys1773= | |
| ENST00000637297.1:c.612G>A | ENSP00000489692.1:p.Lys204= | |
| ENST00000637432.1:c.5334G>A | ENSP00000490617.1:p.Lys1778= | |
| ENST00000637736.1:c.5178G>A | ENSP00000489861.1:p.Lys1726= | |
| ENST00000637769.1:c.5319G>A | ENSP00000489778.1:p.Lys1773= | |
| ENST00000637777.1:c.510G>A | ||
| ENST00000637809.1:n.709G>A | ||
| ENST00000637819.1:c.720G>A | ENSP00000490686.1:p.Lys240= | |
| ENST00000637832.1:n.310G>A | ||
| ENST00000637927.1:c.5322G>A | ENSP00000489715.1:p.Lys1774= | |
| ENST00000638009.2:c.5319G>A | ENSP00000489913.1:p.Lys1773= | |
| ENST00000638029.1:c.5334G>A | ENSP00000489829.1:p.Lys1778= | |
| ENST00000664864.1:c.5520G>A | ENSP00000499449.1:p.Lys1840= | |
| ENST00000360228.9:c.5316G>A | ENSP00000353362.5:p.Lys1772= | |
| ENST00000573710.6:c.5319G>A | ENSP00000460092.2:p.Lys1773= | |
| ENST00000573891.5:c.735G>A | ||
| ENST00000574822.5:n.540G>A | ||
| ENST00000585802.5:c.1374G>A | ENSP00000465598.1:p.Lys458= | |
| ENST00000587525.5:c.777G>A | ENSP00000467729.1:p.Lys259= | |
| ENST00000614285.4:c.5334G>A | ENSP00000479983.1:p.Lys1778= | |
| NM_000068.3:c.5334G>A | NP_000059.3:p.Lys1778= | |
| NM_001127221.1:c.5319G>A , LRG_7t1:c.5319G>A | NP_001120693.1:p.Lys1773= | |
| NM_001127222.1:c.5316G>A | NP_001120694.1:p.Lys1772= | |
| NM_001174080.1:c.5325G>A | NP_001167551.1:p.Lys1775= | |
| NM_023035.2:c.5334G>A | NP_075461.2:p.Lys1778= | |
| NM_000068.4:c.5334G>A | NP_000059.3:p.Lys1778= | |
| NM_001127222.2:c.5316G>A MANE Select | NP_001120694.1:p.Lys1772= | |
| NM_001174080.2:c.5325G>A | NP_001167551.1:p.Lys1775= | |
| NM_023035.3:c.5334G>A | NP_075461.2:p.Lys1778= | |
| NM_001127221.2:c.5319G>A | NP_001120693.1:p.Lys1773= |