Linked Data
ClinVar Variation Id:
507544
dbSNP Id:
rs587735788
ExAC:
11:111896436 G / A
gnomAD v2:
11-111896436-G-A
gnomAD v3:
11-112025712-G-A
gnomAD v4:
11-112025712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112025712G>A , CM000673.2:g.112025712G>A | GRCh38 |
| NC_000011.9:g.111896436G>A , CM000673.1:g.111896436G>A | GRCh37 |
| NC_000011.8:g.111401646G>A | NCBI36 |
| NG_013342.1:g.5899G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.240G>A | ENSP00000518862.1:p.Ser80= | |
| ENST00000280346.11:c.240G>A MANE Select | ENSP00000280346.7:p.Ser80= | |
| ENST00000527231.2:n.287G>A | ||
| ENST00000531306.2:c.240G>A | ENSP00000433432.2:p.Ser80= | |
| ENST00000679368.1:c.240G>A | ENSP00000505314.1:p.Ser80= | |
| ENST00000679466.1:n.287G>A | ||
| ENST00000679614.1:c.24+216G>A | ENSP00000506007.1:n.24+216G>A | |
| ENST00000679815.1:c.240G>A | ENSP00000504880.1:p.Ser80= | |
| ENST00000679829.1:n.287G>A | ||
| ENST00000679878.1:c.240G>A | ENSP00000505567.1:p.Ser80= | |
| ENST00000680010.1:c.240G>A | ENSP00000505768.1:p.Ser80= | |
| ENST00000680331.1:c.240G>A | ENSP00000506707.1:p.Ser80= | |
| ENST00000681316.1:c.240G>A | ENSP00000506560.1:p.Ser80= | |
| ENST00000681328.1:c.240G>A | ENSP00000506355.1:p.Ser80= | |
| ENST00000681339.1:c.240G>A | ENSP00000506167.1:p.Ser80= | |
| ENST00000681638.1:c.240G>A | ENSP00000506090.1:p.Ser80= | |
| ENST00000280346.10:c.240G>A | ENSP00000280346.6:p.Ser80= | |
| ENST00000393051.5:c.240G>A | ENSP00000376771.1:p.Ser80= | |
| ENST00000531306.1:c.117G>A | ENSP00000433432.1:p.Ser39= | |
| ENST00000533297.1:c.152+88G>A | ENSP00000435374.1:n.152+88G>A | |
| NM_001931.4:c.240G>A | NP_001922.2:p.Ser80= | |
| XM_011542647.1:c.240G>A | XP_011540949.1:p.Ser80= | |
| XM_011542647.3:c.240G>A | XP_011540949.1:p.Ser80= | |
| NM_001372031.1:c.240G>A | NP_001358960.1:p.Ser80= | |
| NM_001372032.1:c.240G>A | NP_001358961.1:p.Ser80= | |
| NM_001372033.1:c.240G>A | NP_001358962.1:p.Ser80= | |
| NM_001372034.1:c.240G>A | NP_001358963.1:p.Ser80= | |
| NM_001372035.1:c.240G>A | NP_001358964.1:p.Ser80= | |
| NM_001372036.1:c.199G>A | NP_001358965.1:p.Ala67Thr | |
| NM_001372037.1:c.111+88G>A | NP_001358966.1:n.111+88G>A | |
| NM_001372038.1:c.240G>A | NP_001358967.1:p.Ser80= | |
| NM_001372039.1:c.240G>A | NP_001358968.1:p.Ser80= | |
| NM_001372040.1:c.240G>A | NP_001358969.1:p.Ser80= | |
| NM_001372041.1:c.240G>A | NP_001358970.1:p.Ser80= | |
| NM_001372042.1:c.-227G>A | NP_001358971.1:n.-227G>A | |
| NM_001931.5:c.240G>A MANE Select | NP_001922.2:p.Ser80= | |
| NR_164072.1:n.305G>A |