Linked Data
ClinVar Variation Id:
54887
ClinVar RCV Id:
RCV000112099
RCV000131184
RCV000240742
RCV000483961
RCV002250536
RCV000587116
RCV001080313
RCV003153339
dbSNP Id:
rs80357272
ExAC:
17:41244100 G / A
gnomAD v2:
17-41244100-G-A
gnomAD v3:
17-43092083-G-A
gnomAD v4:
17-43092083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092083G>A , CM000679.2:g.43092083G>A | GRCh38 |
| NC_000017.10:g.41244100G>A , CM000679.1:g.41244100G>A | GRCh37 |
| NC_000017.9:g.38497626G>A | NCBI36 |
| NG_005905.2:g.125901C>T , LRG_292:g.125901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3512C>T | ||
| ENST00000461574.2:c.3448C>T | ENSP00000417241.2:p.Pro1150Ser | |
| ENST00000470026.6:c.3448C>T | ENSP00000419274.2:p.Pro1150Ser | |
| ENST00000473961.6:c.3322C>T | ENSP00000420201.2:p.Pro1108Ser | |
| ENST00000476777.6:c.3445C>T | ENSP00000417554.2:p.Pro1149Ser | |
| ENST00000477152.6:c.3370C>T | ENSP00000419988.2:p.Pro1124Ser | |
| ENST00000478531.6:c.785-1051C>T | ENSP00000420412.2:n.785-1051C>T | |
| ENST00000489037.2:c.3370C>T | ENSP00000420781.2:p.Pro1124Ser | |
| ENST00000493919.6:c.647-1051C>T | ENSP00000418819.2:n.647-1051C>T | |
| ENST00000494123.6:c.3448C>T | ENSP00000419103.2:p.Pro1150Ser | |
| ENST00000497488.2:c.2560C>T | ENSP00000418986.2:p.Pro854Ser | |
| ENST00000618469.2:c.3448C>T | ENSP00000478114.2:p.Pro1150Ser | |
| ENST00000634433.2:c.3325C>T | ENSP00000489431.2:p.Pro1109Ser | |
| ENST00000644379.2:c.3448C>T | ENSP00000496570.2:p.Pro1150Ser | |
| ENST00000644555.2:c.647-1051C>T | ENSP00000494614.2:n.647-1051C>T | |
| ENST00000652672.2:c.3307C>T | ENSP00000498906.2:p.Pro1103Ser | |
| ENST00000484087.6:c.665-1051C>T | ENSP00000419481.2:n.665-1051C>T | |
| ENST00000700182.1:c.707-1051C>T | ENSP00000514849.1:n.707-1051C>T | |
| ENST00000357654.9:c.3448C>T MANE Select | ENSP00000350283.3:p.Pro1150Ser | |
| ENST00000471181.7:c.3448C>T | ENSP00000418960.2:p.Pro1150Ser | |
| ENST00000352993.7:c.671-1051C>T | ENSP00000312236.5:n.671-1051C>T | |
| ENST00000354071.7:c.3448C>T | ENSP00000326002.7:p.Pro1150Ser | |
| ENST00000357654.7:c.3448C>T | ENSP00000350283.3:p.Pro1150Ser | |
| ENST00000461221.5:c.*3231C>T | ENSP00000418548.1:n.*3231C>T | |
| ENST00000468300.5:c.788-1051C>T | ENSP00000417148.1:n.788-1051C>T | |
| ENST00000471181.6:c.3448C>T | ENSP00000418960.2:p.Pro1150Ser | |
| ENST00000478531.5:c.785-1051C>T | ENSP00000420412.1:n.785-1051C>T | |
| ENST00000484087.5:c.410-1051C>T | ENSP00000419481.1:n.410-1051C>T | |
| ENST00000487825.5:c.413-1051C>T | ENSP00000418212.1:n.413-1051C>T | |
| ENST00000491747.6:c.788-1051C>T | ENSP00000420705.2:n.788-1051C>T | |
| ENST00000493795.5:c.3307C>T | ENSP00000418775.1:p.Pro1103Ser | |
| ENST00000493919.5:c.647-1051C>T | ENSP00000418819.1:n.647-1051C>T | |
| ENST00000586385.5:c.5-28132C>T | ENSP00000465818.1:n.5-28132C>T | |
| ENST00000591534.5:c.-43-17562C>T | ENSP00000467329.1:n.-43-17562C>T | |
| ENST00000591849.5:c.-99+33188C>T | ENSP00000465347.1:n.-99+33188C>T | |
| NM_007294.3:c.3448C>T , LRG_292t1:c.3448C>T | NP_009225.1:p.Pro1150Ser | |
| NM_007297.3:c.3307C>T | NP_009228.2:p.Pro1103Ser | |
| NM_007298.3:c.788-1051C>T | NP_009229.2:n.788-1051C>T | |
| NM_007299.3:c.788-1051C>T | NP_009230.2:n.788-1051C>T | |
| NM_007300.3:c.3448C>T | NP_009231.2:p.Pro1150Ser | |
| NR_027676.1:n.3584C>T | ||
| NM_007294.4:c.3448C>T MANE Select | NP_009225.1:p.Pro1150Ser | |
| NM_007297.4:c.3307C>T | NP_009228.2:p.Pro1103Ser | |
| NM_007299.4:c.788-1051C>T | NP_009230.2:n.788-1051C>T | |
| NM_007300.4:c.3448C>T | NP_009231.2:p.Pro1150Ser | |
| NR_027676.2:n.3625C>T |