Linked Data
ClinVar Variation Id:
446928
dbSNP Id:
rs943715197
gnomAD v2:
19-13363864-C-T
gnomAD v3:
19-13253050-C-T
gnomAD v4:
19-13253050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13253050C>T , CM000681.2:g.13253050C>T | GRCh38 |
| NC_000019.9:g.13363864C>T , CM000681.1:g.13363864C>T | GRCh37 |
| NC_000019.8:g.13224864C>T | NCBI36 |
| NG_011569.1:g.258411G>A , LRG_7:g.258411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4807G>A MANE Select | ENSP00000353362.5:p.Val1603Ile | |
| ENST00000573710.7:c.4813G>A | ENSP00000460092.3:p.Val1605Ile | |
| ENST00000573891.6:c.56G>A | ||
| ENST00000574822.6:n.31G>A | ||
| ENST00000635727.1:c.4810G>A | ENSP00000490001.1:p.Val1604Ile | |
| ENST00000635742.1:n.796G>A | ||
| ENST00000635895.1:c.4810G>A | ENSP00000490323.1:p.Val1604Ile | |
| ENST00000635917.1:n.1299G>A | ||
| ENST00000636012.1:c.4810G>A | ENSP00000490223.1:p.Val1604Ile | |
| ENST00000636389.1:c.4810G>A | ENSP00000489992.1:p.Val1604Ile | |
| ENST00000636549.1:c.4810G>A | ENSP00000490578.1:p.Val1604Ile | |
| ENST00000636816.1:n.1495G>A | ||
| ENST00000637004.1:n.1273G>A | ||
| ENST00000637276.1:c.4810G>A | ENSP00000489777.1:p.Val1604Ile | |
| ENST00000637297.1:c.246+4300G>A | ENSP00000489692.1:n.246+4300G>A | |
| ENST00000637432.1:c.4819G>A | ENSP00000490617.1:p.Val1607Ile | |
| ENST00000637692.1:n.1129G>A | ||
| ENST00000637736.1:c.4669G>A | ENSP00000489861.1:p.Val1557Ile | |
| ENST00000637769.1:c.4810G>A | ENSP00000489778.1:p.Val1604Ile | |
| ENST00000637819.1:c.205G>A | ENSP00000490686.1:p.Val69Ile | |
| ENST00000637927.1:c.4813G>A | ENSP00000489715.1:p.Val1605Ile | |
| ENST00000638009.2:c.4810G>A | ENSP00000489913.1:p.Val1604Ile | |
| ENST00000638029.1:c.4819G>A | ENSP00000489829.1:p.Val1607Ile | |
| ENST00000664864.1:c.5005G>A | ENSP00000499449.1:p.Val1669Ile | |
| ENST00000360228.9:c.4807G>A | ENSP00000353362.5:p.Val1603Ile | |
| ENST00000573710.6:c.4810G>A | ENSP00000460092.2:p.Val1604Ile | |
| ENST00000573891.5:c.56G>A | ||
| ENST00000574822.5:n.31G>A | ||
| ENST00000585802.5:c.865G>A | ENSP00000465598.1:p.Val289Ile | |
| ENST00000587525.5:c.268G>A | ENSP00000467729.1:p.Val90Ile | |
| ENST00000614285.4:c.4819G>A | ENSP00000479983.1:p.Val1607Ile | |
| NM_000068.3:c.4819G>A | NP_000059.3:p.Val1607Ile | |
| NM_001127221.1:c.4810G>A , LRG_7t1:c.4810G>A | NP_001120693.1:p.Val1604Ile | |
| NM_001127222.1:c.4807G>A | NP_001120694.1:p.Val1603Ile | |
| NM_001174080.1:c.4810G>A | NP_001167551.1:p.Val1604Ile | |
| NM_023035.2:c.4819G>A | NP_075461.2:p.Val1607Ile | |
| NM_000068.4:c.4819G>A | NP_000059.3:p.Val1607Ile | |
| NM_001127222.2:c.4807G>A MANE Select | NP_001120694.1:p.Val1603Ile | |
| NM_001174080.2:c.4810G>A | NP_001167551.1:p.Val1604Ile | |
| NM_023035.3:c.4819G>A | NP_075461.2:p.Val1607Ile | |
| NM_001127221.2:c.4810G>A | NP_001120693.1:p.Val1604Ile |