Linked Data
ClinVar Variation Id:
383814
dbSNP Id:
rs182161386
ExAC:
19:13366002 G / C
gnomAD v2:
19-13366002-G-C
gnomAD v3:
19-13255188-G-C
gnomAD v4:
19-13255188-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13255188G>C , CM000681.2:g.13255188G>C | GRCh38 |
| NC_000019.9:g.13366002G>C , CM000681.1:g.13366002G>C | GRCh37 |
| NC_000019.8:g.13227002G>C | NCBI36 |
| NG_011569.1:g.256273C>G , LRG_7:g.256273C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4662C>G MANE Select | ENSP00000353362.5:p.Phe1554Leu | |
| ENST00000573710.7:c.4668C>G | ENSP00000460092.3:p.Phe1556Leu | |
| ENST00000635727.1:c.4665C>G | ENSP00000490001.1:p.Phe1555Leu | |
| ENST00000635742.1:n.651C>G | ||
| ENST00000635895.1:c.4665C>G | ENSP00000490323.1:p.Phe1555Leu | |
| ENST00000635917.1:n.1154C>G | ||
| ENST00000636012.1:c.4665C>G | ENSP00000490223.1:p.Phe1555Leu | |
| ENST00000636389.1:c.4665C>G | ENSP00000489992.1:p.Phe1555Leu | |
| ENST00000636549.1:c.4665C>G | ENSP00000490578.1:p.Phe1555Leu | |
| ENST00000636816.1:n.1350C>G | ||
| ENST00000637004.1:n.1128C>G | ||
| ENST00000637276.1:c.4665C>G | ENSP00000489777.1:p.Phe1555Leu | |
| ENST00000637297.1:c.246+2162C>G | ENSP00000489692.1:n.246+2162C>G | |
| ENST00000637432.1:c.4674C>G | ENSP00000490617.1:p.Phe1558Leu | |
| ENST00000637692.1:n.984C>G | ||
| ENST00000637736.1:c.4524C>G | ENSP00000489861.1:p.Phe1508Leu | |
| ENST00000637769.1:c.4665C>G | ENSP00000489778.1:p.Phe1555Leu | |
| ENST00000637819.1:c.60C>G | ENSP00000490686.1:p.Phe20Leu | |
| ENST00000637927.1:c.4668C>G | ENSP00000489715.1:p.Phe1556Leu | |
| ENST00000638009.2:c.4665C>G | ENSP00000489913.1:p.Phe1555Leu | |
| ENST00000638029.1:c.4674C>G | ENSP00000489829.1:p.Phe1558Leu | |
| ENST00000664864.1:c.4860C>G | ENSP00000499449.1:p.Phe1620Leu | |
| ENST00000360228.9:c.4662C>G | ENSP00000353362.5:p.Phe1554Leu | |
| ENST00000573710.6:c.4665C>G | ENSP00000460092.2:p.Phe1555Leu | |
| ENST00000585802.5:c.720C>G | ENSP00000465598.1:p.Phe240Leu | |
| ENST00000587525.5:c.123C>G | ENSP00000467729.1:p.Phe41Leu | |
| ENST00000614285.4:c.4674C>G | ENSP00000479983.1:p.Phe1558Leu | |
| NM_000068.3:c.4674C>G | NP_000059.3:p.Phe1558Leu | |
| NM_001127221.1:c.4665C>G , LRG_7t1:c.4665C>G | NP_001120693.1:p.Phe1555Leu | |
| NM_001127222.1:c.4662C>G | NP_001120694.1:p.Phe1554Leu | |
| NM_001174080.1:c.4665C>G | NP_001167551.1:p.Phe1555Leu | |
| NM_023035.2:c.4674C>G | NP_075461.2:p.Phe1558Leu | |
| NM_000068.4:c.4674C>G | NP_000059.3:p.Phe1558Leu | |
| NM_001127222.2:c.4662C>G MANE Select | NP_001120694.1:p.Phe1554Leu | |
| NM_001174080.2:c.4665C>G | NP_001167551.1:p.Phe1555Leu | |
| NM_023035.3:c.4674C>G | NP_075461.2:p.Phe1558Leu | |
| NM_001127221.2:c.4665C>G | NP_001120693.1:p.Phe1555Leu |