Linked Data
ClinVar Variation Id:
289331
dbSNP Id:
rs199520186
ExAC:
11:111896361 C / G
gnomAD v2:
11-111896361-C-G
gnomAD v3:
11-112025637-C-G
gnomAD v4:
11-112025637-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112025637C>G , CM000673.2:g.112025637C>G | GRCh38 |
| NC_000011.9:g.111896361C>G , CM000673.1:g.111896361C>G | GRCh37 |
| NC_000011.8:g.111401571C>G | NCBI36 |
| NG_013342.1:g.5824C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.165C>G | ENSP00000518862.1:p.Val55= | |
| ENST00000280346.11:c.165C>G MANE Select | ENSP00000280346.7:p.Val55= | |
| ENST00000527231.2:n.212C>G | ||
| ENST00000531306.2:c.165C>G | ENSP00000433432.2:p.Val55= | |
| ENST00000679368.1:c.165C>G | ENSP00000505314.1:p.Val55= | |
| ENST00000679466.1:n.212C>G | ||
| ENST00000679614.1:c.24+141C>G | ENSP00000506007.1:n.24+141C>G | |
| ENST00000679815.1:c.165C>G | ENSP00000504880.1:p.Val55= | |
| ENST00000679829.1:n.212C>G | ||
| ENST00000679878.1:c.165C>G | ENSP00000505567.1:p.Val55= | |
| ENST00000680010.1:c.165C>G | ENSP00000505768.1:p.Val55= | |
| ENST00000680331.1:c.165C>G | ENSP00000506707.1:p.Val55= | |
| ENST00000681316.1:c.165C>G | ENSP00000506560.1:p.Val55= | |
| ENST00000681328.1:c.165C>G | ENSP00000506355.1:p.Val55= | |
| ENST00000681339.1:c.165C>G | ENSP00000506167.1:p.Val55= | |
| ENST00000681638.1:c.165C>G | ENSP00000506090.1:p.Val55= | |
| ENST00000280346.10:c.165C>G | ENSP00000280346.6:p.Val55= | |
| ENST00000393051.5:c.165C>G | ENSP00000376771.1:p.Val55= | |
| ENST00000531306.1:c.42C>G | ENSP00000433432.1:p.Val14= | |
| ENST00000533297.1:c.152+13C>G | ENSP00000435374.1:n.152+13C>G | |
| NM_001931.4:c.165C>G | NP_001922.2:p.Val55= | |
| XM_011542647.1:c.165C>G | XP_011540949.1:p.Val55= | |
| XM_011542647.3:c.165C>G | XP_011540949.1:p.Val55= | |
| NM_001372031.1:c.165C>G | NP_001358960.1:p.Val55= | |
| NM_001372032.1:c.165C>G | NP_001358961.1:p.Val55= | |
| NM_001372033.1:c.165C>G | NP_001358962.1:p.Val55= | |
| NM_001372034.1:c.165C>G | NP_001358963.1:p.Val55= | |
| NM_001372035.1:c.165C>G | NP_001358964.1:p.Val55= | |
| NM_001372036.1:c.124C>G | NP_001358965.1:p.Pro42Ala | |
| NM_001372037.1:c.111+13C>G | NP_001358966.1:n.111+13C>G | |
| NM_001372038.1:c.165C>G | NP_001358967.1:p.Val55= | |
| NM_001372039.1:c.165C>G | NP_001358968.1:p.Val55= | |
| NM_001372040.1:c.165C>G | NP_001358969.1:p.Val55= | |
| NM_001372041.1:c.165C>G | NP_001358970.1:p.Val55= | |
| NM_001372042.1:c.-302C>G | NP_001358971.1:n.-302C>G | |
| NM_001931.5:c.165C>G MANE Select | NP_001922.2:p.Val55= | |
| NR_164072.1:n.230C>G |