Linked Data
ClinVar Variation Id:
134288
dbSNP Id:
rs587778323
ExAC:
16:89874745 G / T
gnomAD v2:
16-89874745-G-T
gnomAD v3:
16-89808337-G-T
gnomAD v4:
16-89808337-G-T
COSMIC:
COSM974964
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89808337G>T , CM000678.2:g.89808337G>T | GRCh38 |
| NC_000016.9:g.89874745G>T , CM000678.1:g.89874745G>T | GRCh37 |
| NC_000016.8:g.88402246G>T | NCBI36 |
| NG_011706.1:g.13321C>A , LRG_495:g.13321C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.553C>A | ENSP00000512522.1:p.Leu185Ile | |
| ENST00000563767.2:n.388C>A | ||
| ENST00000564475.6:c.553C>A | ENSP00000454977.2:p.Leu185Ile | |
| ENST00000567205.2:c.553C>A | ENSP00000457027.2:p.Leu185Ile | |
| ENST00000567284.7:n.596C>A | ||
| ENST00000567621.6:c.553C>A | ENSP00000456762.2:p.Leu185Ile | |
| ENST00000568369.6:c.553C>A | ENSP00000456829.1:p.Leu185Ile | |
| ENST00000696274.1:n.627C>A | ||
| ENST00000696275.1:c.553C>A | ENSP00000512517.1:p.Leu185Ile | |
| ENST00000696276.1:n.596C>A | ||
| ENST00000696277.1:c.553C>A | ENSP00000512518.1:p.Leu185Ile | |
| ENST00000696286.1:c.553C>A | ENSP00000512523.1:p.Leu185Ile | |
| ENST00000696287.1:c.553C>A | ENSP00000512524.1:p.Leu185Ile | |
| ENST00000696288.1:c.584C>A | ENSP00000512525.1:n.584C>A | |
| ENST00000696291.1:c.522+2370C>A | ENSP00000512530.1:n.522+2370C>A | |
| ENST00000696292.1:c.418C>A | ENSP00000512531.1:n.418C>A | |
| ENST00000696293.1:c.410C>A | ENSP00000512532.1:n.410C>A | |
| ENST00000696294.1:c.388C>A | ENSP00000512533.1:p.Leu130Ile | |
| ENST00000696295.1:c.388C>A | ENSP00000512534.1:p.Leu130Ile | |
| ENST00000696296.1:c.388C>A | ENSP00000512535.1:p.Leu130Ile | |
| ENST00000389301.8:c.553C>A MANE Select | ENSP00000373952.3:p.Leu185Ile | |
| ENST00000389301.7:c.553C>A | ENSP00000373952.3:p.Leu185Ile | |
| ENST00000389302.7:c.553C>A | ENSP00000373953.3:p.Leu185Ile | |
| ENST00000534992.5:c.553C>A | ENSP00000443675.1:p.Leu185Ile | |
| ENST00000543736.5:c.457C>A | ENSP00000443409.1:p.Leu153Ile | |
| ENST00000563513.1:c.*194C>A | ENSP00000455946.1:n.*194C>A | |
| ENST00000563673.5:c.553C>A | ENSP00000456443.1:p.Leu185Ile | |
| ENST00000565582.5:c.466C>A | ENSP00000456722.1:p.Leu156Ile | |
| ENST00000566889.5:n.1135C>A | ||
| ENST00000567621.5:c.30C>A | ||
| ENST00000568369.5:c.553C>A | ENSP00000456829.1:p.Leu185Ile | |
| NM_000135.2:c.553C>A , LRG_495t1:c.553C>A | NP_000126.2:p.Leu185Ile | |
| NM_001018112.1:c.553C>A | NP_001018122.1:p.Leu185Ile | |
| NM_001286167.1:c.553C>A | NP_001273096.1:p.Leu185Ile | |
| XM_005256294.3:c.553C>A | XP_005256351.1:p.Leu185Ile | |
| XM_011522945.1:c.553C>A | XP_011521247.1:p.Leu185Ile | |
| XM_011522946.1:c.-600C>A | XP_011521248.1:n.-600C>A | |
| XM_011522947.1:c.-358C>A | XP_011521249.1:n.-358C>A | |
| XM_011522948.1:c.553C>A | XP_011521250.1:p.Leu185Ile | |
| XR_933244.1:n.596C>A | ||
| XR_933245.1:n.596C>A | ||
| XR_933246.1:n.596C>A | ||
| XR_933247.1:n.596C>A | ||
| NM_000135.3:c.553C>A | NP_000126.2:p.Leu185Ile | |
| NM_001018112.2:c.553C>A | NP_001018122.1:p.Leu185Ile | |
| NM_001286167.2:c.553C>A | NP_001273096.1:p.Leu185Ile | |
| NM_001351830.1:c.457C>A | NP_001338759.1:p.Leu153Ile | |
| XM_005256294.4:c.553C>A | XP_005256351.1:p.Leu185Ile | |
| XM_011522945.2:c.553C>A | XP_011521247.1:p.Leu185Ile | |
| XM_011522946.3:c.-600C>A | XP_011521248.1:n.-600C>A | |
| XM_011522947.2:c.-358C>A | XP_011521249.1:n.-358C>A | |
| XM_011522948.2:c.553C>A | XP_011521250.1:p.Leu185Ile | |
| XM_017023044.2:c.553C>A | XP_016878533.1:p.Leu185Ile | |
| XM_017023045.1:c.553C>A | XP_016878534.1:p.Leu185Ile | |
| XM_017023046.1:c.553C>A | XP_016878535.1:p.Leu185Ile | |
| XM_024450189.1:c.-600C>A | XP_024305957.1:n.-600C>A | |
| XR_001751866.1:n.596C>A | ||
| XR_001751867.1:n.596C>A | ||
| XR_001751868.2:n.596C>A | ||
| XR_002957793.1:n.596C>A | ||
| XR_933244.2:n.596C>A | ||
| XR_933245.2:n.596C>A | ||
| XR_933247.2:n.596C>A | ||
| NM_000135.4:c.553C>A MANE Select | NP_000126.2:p.Leu185Ile | |
| NM_001018112.3:c.553C>A | NP_001018122.1:p.Leu185Ile | |
| NM_001286167.3:c.553C>A | NP_001273096.1:p.Leu185Ile | |
| NM_001351830.2:c.457C>A | NP_001338759.1:p.Leu153Ile |