Linked Data
ClinVar Variation Id:
214291
ClinVar RCV Id:
RCV000196681
dbSNP Id:
rs200786104
ExAC:
11:111899344 A / G
gnomAD v2:
11-111899344-A-G
gnomAD v3:
11-112028620-A-G
gnomAD v4:
11-112028620-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112028620A>G , CM000673.2:g.112028620A>G | GRCh38 |
| NC_000011.9:g.111899344A>G , CM000673.1:g.111899344A>G | GRCh37 |
| NC_000011.8:g.111404554A>G | NCBI36 |
| NG_013342.1:g.8807A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.487A>G | ENSP00000518862.1:p.Ile163Val | |
| ENST00000280346.11:c.487A>G MANE Select | ENSP00000280346.7:p.Ile163Val | |
| ENST00000527231.2:n.534A>G | ||
| ENST00000531306.2:c.364+2338A>G | ENSP00000433432.2:n.364+2338A>G | |
| ENST00000679368.1:c.487A>G | ENSP00000505314.1:p.Ile163Val | |
| ENST00000679466.1:n.534A>G | ||
| ENST00000679614.1:c.25-293A>G | ENSP00000506007.1:n.25-293A>G | |
| ENST00000679815.1:c.487A>G | ENSP00000504880.1:p.Ile163Val | |
| ENST00000679829.1:n.534A>G | ||
| ENST00000679878.1:c.454A>G | ENSP00000505567.1:p.Ile152Val | |
| ENST00000680010.1:c.487A>G | ENSP00000505768.1:p.Ile163Val | |
| ENST00000680331.1:c.381+2321A>G | ENSP00000506707.1:n.381+2321A>G | |
| ENST00000680411.1:c.232A>G | ENSP00000505915.1:p.Ile78Val | |
| ENST00000681316.1:c.487A>G | ENSP00000506560.1:p.Ile163Val | |
| ENST00000681328.1:c.487A>G | ENSP00000506355.1:p.Ile163Val | |
| ENST00000681339.1:c.487A>G | ENSP00000506167.1:p.Ile163Val | |
| ENST00000681638.1:c.487A>G | ENSP00000506090.1:p.Ile163Val | |
| ENST00000280346.10:c.487A>G | ENSP00000280346.6:p.Ile163Val | |
| ENST00000393051.5:c.487A>G | ENSP00000376771.1:p.Ile163Val | |
| ENST00000531306.1:c.241+2338A>G | ENSP00000433432.1:n.241+2338A>G | |
| ENST00000533297.1:c.*162A>G | ENSP00000435374.1:n.*162A>G | |
| NM_001931.4:c.487A>G | NP_001922.2:p.Ile163Val | |
| XM_011542647.1:c.487A>G | XP_011540949.1:p.Ile163Val | |
| XM_011542647.3:c.487A>G | XP_011540949.1:p.Ile163Val | |
| NM_001372031.1:c.487A>G | NP_001358960.1:p.Ile163Val | |
| NM_001372032.1:c.487A>G | NP_001358961.1:p.Ile163Val | |
| NM_001372033.1:c.487A>G | NP_001358962.1:p.Ile163Val | |
| NM_001372034.1:c.454A>G | NP_001358963.1:p.Ile152Val | |
| NM_001372035.1:c.487A>G | NP_001358964.1:p.Ile163Val | |
| NM_001372036.1:c.361A>G | NP_001358965.1:p.Ile121Val | |
| NM_001372037.1:c.319A>G | NP_001358966.1:p.Ile107Val | |
| NM_001372038.1:c.381+2321A>G | NP_001358967.1:n.381+2321A>G | |
| NM_001372039.1:c.487A>G | NP_001358968.1:p.Ile163Val | |
| NM_001372040.1:c.364+2338A>G | NP_001358969.1:n.364+2338A>G | |
| NM_001372041.1:c.487A>G | NP_001358970.1:p.Ile163Val | |
| NM_001372042.1:c.21A>G | NP_001358971.1:p.Ser7= | |
| NM_001931.5:c.487A>G MANE Select | NP_001922.2:p.Ile163Val | |
| NR_164072.1:n.552A>G |