Linked Data
ClinVar Variation Id:
1058778
ClinVar RCV Id:
RCV001367954
dbSNP Id:
rs1157647320
gnomAD v3:
1-113902653-C-T
gnomAD v4:
1-113902653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113902653C>T , CM000663.2:g.113902653C>T | GRCh38 |
| NC_000001.10:g.114445275C>T , CM000663.1:g.114445275C>T | GRCh37 |
| NC_000001.9:g.114246798C>T | NCBI36 |
| NG_031901.1:g.7467G>A | |
| NG_057565.1:g.3035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.114-768G>A | ENSP00000358577.2:n.114-768G>A | |
| ENST00000369567.6:c.113+1952G>A | ENSP00000358580.1:n.113+1952G>A | |
| ENST00000369571.3:c.323G>A | ENSP00000358584.3:p.Ser108Asn | |
| ENST00000432415.6:c.113+1952G>A | ENSP00000393622.2:n.113+1952G>A | |
| ENST00000460653.2:c.323G>A | ENSP00000518881.1:p.Ser108Asn | |
| ENST00000484201.6:c.114-768G>A | ENSP00000518883.1:n.114-768G>A | |
| ENST00000489092.6:c.195G>A | ENSP00000518884.1:p.Glu65= | |
| ENST00000489499.6:c.323G>A | ENSP00000518882.1:p.Ser108Asn | |
| ENST00000713588.1:c.323G>A | ENSP00000518880.1:p.Ser108Asn | |
| ENST00000713590.1:c.323G>A | ENSP00000518886.1:p.Ser108Asn | |
| ENST00000369569.6:c.323G>A MANE Select | ENSP00000358582.1:p.Ser108Asn | |
| ENST00000256658.8:c.323G>A | ENSP00000256658.4:p.Ser108Asn | |
| ENST00000369564.5:c.114-768G>A | ENSP00000358577.1:n.114-768G>A | |
| ENST00000369567.5:c.113+1952G>A | ENSP00000358580.1:n.113+1952G>A | |
| ENST00000369569.5:c.323G>A | ENSP00000358582.1:p.Ser108Asn | |
| ENST00000369571.2:c.323G>A | ENSP00000358584.2:p.Ser108Asn | |
| ENST00000432415.5:c.113+1952G>A | ENSP00000393622.1:n.113+1952G>A | |
| ENST00000484201.5:n.305-768G>A | ||
| ENST00000489092.5:n.322G>A | ||
| ENST00000489499.5:n.439G>A | ||
| NM_001253852.1:c.323G>A | NP_001240781.1:p.Ser108Asn | |
| NM_001253852.2:c.323G>A | NP_001240781.1:p.Ser108Asn | |
| NM_001253853.1:c.26G>A | NP_001240782.1:p.Ser9Asn | |
| NM_001253853.2:c.26G>A | NP_001240782.1:p.Ser9Asn | |
| NM_001308312.1:c.113+1952G>A | NP_001295241.1:n.113+1952G>A | |
| NM_006594.3:c.323G>A | NP_006585.2:p.Ser108Asn | |
| NM_006594.4:c.323G>A | NP_006585.2:p.Ser108Asn | |
| XM_005270381.2:c.323G>A | XP_005270438.1:p.Ser108Asn | |
| XM_005270382.3:c.323G>A | XP_005270439.1:p.Ser108Asn | |
| XM_011540523.1:c.114-768G>A | XP_011538825.1:n.114-768G>A | |
| XM_011540524.1:c.114-768G>A | XP_011538826.1:n.114-768G>A | |
| XM_011540525.1:c.323G>A | XP_011538827.1:p.Ser108Asn | |
| XM_011540527.1:c.-148G>A | XP_011538829.1:n.-148G>A | |
| XR_246227.1:n.505G>A | ||
| XR_246228.2:n.505G>A | ||
| XM_011540523.3:c.114-768G>A | XP_011538825.1:n.114-768G>A | |
| XM_011540525.3:c.323G>A | XP_011538827.1:p.Ser108Asn | |
| XM_017000089.2:c.323G>A | XP_016855578.1:p.Ser108Asn | |
| XM_017000090.1:c.113+1952G>A | XP_016855579.1:n.113+1952G>A | |
| XM_017000091.2:c.323G>A | XP_016855580.1:p.Ser108Asn | |
| XM_017000092.2:c.-922G>A | XP_016855581.1:n.-922G>A | |
| XM_017000093.2:c.323G>A | XP_016855582.1:p.Ser108Asn | |
| XM_024452422.1:c.323G>A | XP_024308190.1:p.Ser108Asn | |
| XM_024452423.1:c.323G>A | XP_024308191.1:p.Ser108Asn | |
| XM_024452435.1:c.114-768G>A | XP_024308203.1:n.114-768G>A | |
| XM_024452441.1:c.113+1952G>A | XP_024308209.1:n.113+1952G>A | |
| XR_001736928.2:n.525G>A | ||
| XR_001736930.2:n.525G>A | ||
| XR_002958805.1:n.525G>A | ||
| XR_002958806.1:n.525G>A | ||
| XR_002958807.1:n.405G>A | ||
| NM_001253852.3:c.323G>A MANE Select | NP_001240781.1:p.Ser108Asn | |
| NM_001253853.3:c.26G>A | NP_001240782.1:p.Ser9Asn | |
| NM_001308312.2:c.113+1952G>A | NP_001295241.1:n.113+1952G>A | |
| NM_006594.5:c.323G>A | NP_006585.2:p.Ser108Asn |