Linked Data
ClinVar Variation Id:
217672
ClinVar RCV Id:
RCV000201754
RCV000479872
RCV000984285
RCV000984284
RCV000984286
RCV001853235
RCV003230449
dbSNP Id:
rs773684291
gnomAD v2:
17-56285320-G-A
gnomAD v3:
17-58207959-G-A
gnomAD v4:
17-58207959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58207959G>A , CM000679.2:g.58207959G>A | GRCh38 |
| NC_000017.10:g.56285320G>A , CM000679.1:g.56285320G>A | GRCh37 |
| NC_000017.9:g.53640319G>A | NCBI36 |
| NG_013032.1:g.16647C>T , LRG_687:g.16647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1208C>T | ENSP00000316631.6:p.Ser403Leu | |
| ENST00000393119.7:c.1208C>T MANE Select | ENSP00000376827.2:p.Ser403Leu | |
| ENST00000537529.7:c.779C>T | ENSP00000442096.3:p.Ser260Leu | |
| ENST00000580127.6:c.1208C>T | ENSP00000462423.2:p.Ser403Leu | |
| ENST00000585134.2:c.1208C>T | ENSP00000463826.2:p.Ser403Leu | |
| ENST00000675753.2:c.*827C>T | ENSP00000502156.1:n.*827C>T | |
| ENST00000676787.1:c.1079C>T | ENSP00000503999.1:p.Ser360Leu | |
| ENST00000677111.1:c.*145C>T | ENSP00000504282.1:n.*145C>T | |
| ENST00000677160.1:n.2482C>T | ||
| ENST00000677416.1:n.1233C>T | ||
| ENST00000677486.1:c.*552C>T | ENSP00000503852.1:n.*552C>T | |
| ENST00000677709.1:n.1233C>T | ||
| ENST00000678011.1:n.1571C>T | ||
| ENST00000678432.1:c.*827C>T | ENSP00000504452.1:n.*827C>T | |
| ENST00000678463.1:c.1208C>T | ENSP00000502984.1:p.Ser403Leu | |
| ENST00000678568.1:c.*615C>T | ENSP00000504754.1:n.*615C>T | |
| ENST00000678641.1:c.*552C>T | ENSP00000503159.1:n.*552C>T | |
| ENST00000678763.1:n.986C>T | ||
| ENST00000313863.10:c.1208C>T | ENSP00000316631.6:p.Ser403Leu | |
| ENST00000393119.6:c.1208C>T | ENSP00000376827.2:p.Ser403Leu | |
| ENST00000393120.6:c.*615C>T | ENSP00000376828.2:n.*615C>T | |
| ENST00000537529.6:c.1178C>T | ENSP00000442096.2:p.Ser393Leu | |
| ENST00000577315.5:c.261C>T | ||
| ENST00000577824.5:c.761C>T | ||
| ENST00000585134.1:c.431C>T | ENSP00000463826.1:p.Ser144Leu | |
| NM_001165927.1:c.1178C>T , LRG_687t2:c.1178C>T | NP_001159399.1:p.Ser393Leu | |
| NM_017777.3:c.1208C>T , LRG_687t1:c.1208C>T | NP_060247.2:p.Ser403Leu | |
| XM_005257483.3:c.1208C>T | XP_005257540.1:p.Ser403Leu | |
| XM_005257485.3:c.779C>T | XP_005257542.1:p.Ser260Leu | |
| XM_005257486.3:c.599C>T | XP_005257543.1:p.Ser200Leu | |
| XM_006721965.2:c.599C>T | XP_006722028.1:p.Ser200Leu | |
| XM_011524957.1:c.1217C>T | XP_011523259.1:p.Ser406Leu | |
| XM_011524958.1:c.1217C>T | XP_011523260.1:p.Ser406Leu | |
| XM_011524959.1:c.1217C>T | XP_011523261.1:p.Ser406Leu | |
| XM_011524960.1:c.1217C>T | XP_011523262.1:p.Ser406Leu | |
| XR_934494.1:n.1222C>T | ||
| NM_001321268.1:c.599C>T | NP_001308197.1:p.Ser200Leu | |
| NM_001321269.1:c.1208C>T | NP_001308198.1:p.Ser403Leu | |
| NM_001330397.1:c.1208C>T | NP_001317326.1:p.Ser403Leu | |
| XM_005257485.4:c.779C>T | XP_005257542.1:p.Ser260Leu | |
| XM_006721965.3:c.599C>T | XP_006722028.1:p.Ser200Leu | |
| XM_011524957.2:c.1217C>T | XP_011523259.1:p.Ser406Leu | |
| XM_011524958.2:c.1217C>T | XP_011523260.1:p.Ser406Leu | |
| XM_011524959.2:c.1217C>T | XP_011523261.1:p.Ser406Leu | |
| XM_011524960.2:c.1217C>T | XP_011523262.1:p.Ser406Leu | |
| XM_017024804.2:c.1208C>T | XP_016880293.1:p.Ser403Leu | |
| XM_017024805.1:c.779C>T | XP_016880294.1:p.Ser260Leu | |
| XR_002958042.1:n.1219C>T | ||
| NM_001321268.2:c.599C>T | NP_001308197.1:p.Ser200Leu | |
| NM_001321269.2:c.1208C>T | NP_001308198.1:p.Ser403Leu | |
| NM_001330397.2:c.1208C>T | NP_001317326.1:p.Ser403Leu | |
| NM_017777.4:c.1208C>T MANE Select | NP_060247.2:p.Ser403Leu |