Linked Data
ClinVar Variation Id:
134289
dbSNP Id:
rs144420697
ExAC:
16:89871774 G / A
gnomAD v2:
16-89871774-G-A
gnomAD v3:
16-89805366-G-A
gnomAD v4:
16-89805366-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89805366G>A , CM000678.2:g.89805366G>A | GRCh38 |
| NC_000016.9:g.89871774G>A , CM000678.1:g.89871774G>A | GRCh37 |
| NC_000016.8:g.88399275G>A | NCBI36 |
| NG_011706.1:g.16292C>T , LRG_495:g.16292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.623C>T | ENSP00000512522.1:p.Ser208Leu | |
| ENST00000563767.2:n.458C>T | ||
| ENST00000564475.6:c.623C>T | ENSP00000454977.2:p.Ser208Leu | |
| ENST00000567205.2:c.623C>T | ENSP00000457027.2:p.Ser208Leu | |
| ENST00000567284.7:n.666C>T | ||
| ENST00000567621.6:c.623C>T | ENSP00000456762.2:p.Ser208Leu | |
| ENST00000568369.6:c.623C>T | ENSP00000456829.1:p.Ser208Leu | |
| ENST00000696274.1:n.697C>T | ||
| ENST00000696275.1:c.623C>T | ENSP00000512517.1:p.Ser208Leu | |
| ENST00000696276.1:n.666C>T | ||
| ENST00000696277.1:c.623C>T | ENSP00000512518.1:p.Ser208Leu | |
| ENST00000696286.1:c.623C>T | ENSP00000512523.1:p.Ser208Leu | |
| ENST00000696287.1:c.623C>T | ENSP00000512524.1:p.Ser208Leu | |
| ENST00000696288.1:c.654C>T | ENSP00000512525.1:n.654C>T | |
| ENST00000696291.1:c.549C>T | ENSP00000512530.1:p.Ile183= | |
| ENST00000696292.1:c.488C>T | ENSP00000512531.1:n.488C>T | |
| ENST00000696293.1:c.480C>T | ENSP00000512532.1:n.480C>T | |
| ENST00000696294.1:c.458C>T | ENSP00000512533.1:p.Ser153Leu | |
| ENST00000696295.1:c.458C>T | ENSP00000512534.1:p.Ser153Leu | |
| ENST00000696296.1:c.458C>T | ENSP00000512535.1:p.Ser153Leu | |
| ENST00000389301.8:c.623C>T MANE Select | ENSP00000373952.3:p.Ser208Leu | |
| ENST00000389301.7:c.623C>T | ENSP00000373952.3:p.Ser208Leu | |
| ENST00000389302.7:c.623C>T | ENSP00000373953.3:p.Ser208Leu | |
| ENST00000534992.5:c.623C>T | ENSP00000443675.1:p.Ser208Leu | |
| ENST00000543736.5:c.527C>T | ENSP00000443409.1:p.Ser176Leu | |
| ENST00000563673.5:c.623C>T | ENSP00000456443.1:p.Ser208Leu | |
| ENST00000565582.5:c.536C>T | ENSP00000456722.1:p.Ser179Leu | |
| ENST00000566889.5:n.1205C>T | ||
| ENST00000567621.5:c.100C>T | ||
| ENST00000568369.5:c.623C>T | ENSP00000456829.1:p.Ser208Leu | |
| NM_000135.2:c.623C>T , LRG_495t1:c.623C>T | NP_000126.2:p.Ser208Leu | |
| NM_001018112.1:c.623C>T | NP_001018122.1:p.Ser208Leu | |
| NM_001286167.1:c.623C>T | NP_001273096.1:p.Ser208Leu | |
| XM_005256294.3:c.623C>T | XP_005256351.1:p.Ser208Leu | |
| XM_011522945.1:c.623C>T | XP_011521247.1:p.Ser208Leu | |
| XM_011522946.1:c.-530C>T | XP_011521248.1:n.-530C>T | |
| XM_011522947.1:c.-288C>T | XP_011521249.1:n.-288C>T | |
| XM_011522948.1:c.623C>T | XP_011521250.1:p.Ser208Leu | |
| XR_933244.1:n.666C>T | ||
| XR_933245.1:n.666C>T | ||
| XR_933246.1:n.666C>T | ||
| XR_933247.1:n.666C>T | ||
| NM_000135.3:c.623C>T | NP_000126.2:p.Ser208Leu | |
| NM_001018112.2:c.623C>T | NP_001018122.1:p.Ser208Leu | |
| NM_001286167.2:c.623C>T | NP_001273096.1:p.Ser208Leu | |
| NM_001351830.1:c.527C>T | NP_001338759.1:p.Ser176Leu | |
| XM_005256294.4:c.623C>T | XP_005256351.1:p.Ser208Leu | |
| XM_011522945.2:c.623C>T | XP_011521247.1:p.Ser208Leu | |
| XM_011522946.3:c.-530C>T | XP_011521248.1:n.-530C>T | |
| XM_011522947.2:c.-288C>T | XP_011521249.1:n.-288C>T | |
| XM_011522948.2:c.623C>T | XP_011521250.1:p.Ser208Leu | |
| XM_017023044.2:c.623C>T | XP_016878533.1:p.Ser208Leu | |
| XM_017023045.1:c.623C>T | XP_016878534.1:p.Ser208Leu | |
| XM_017023046.1:c.623C>T | XP_016878535.1:p.Ser208Leu | |
| XM_024450189.1:c.-530C>T | XP_024305957.1:n.-530C>T | |
| XR_001751866.1:n.666C>T | ||
| XR_001751867.1:n.666C>T | ||
| XR_001751868.2:n.666C>T | ||
| XR_002957793.1:n.666C>T | ||
| XR_933244.2:n.666C>T | ||
| XR_933245.2:n.666C>T | ||
| XR_933247.2:n.666C>T | ||
| NM_000135.4:c.623C>T MANE Select | NP_000126.2:p.Ser208Leu | |
| NM_001018112.3:c.623C>T | NP_001018122.1:p.Ser208Leu | |
| NM_001286167.3:c.623C>T | NP_001273096.1:p.Ser208Leu | |
| NM_001351830.2:c.527C>T | NP_001338759.1:p.Ser176Leu |