Linked Data
ClinVar Variation Id:
191094
ClinVar RCV Id:
RCV000171274
dbSNP Id:
rs148059981
ExAC:
18:46889603 C / T
gnomAD v2:
18-46889603-C-T
gnomAD v3:
18-49363233-C-T
gnomAD v4:
18-49363233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49363233C>T , CM000680.2:g.49363233C>T | GRCh38 |
| NC_000018.9:g.46889603C>T , CM000680.1:g.46889603C>T | GRCh37 |
| NC_000018.8:g.45143601C>T | NCBI36 |
| NG_009239.1:g.102477G>A | |
| NG_009239.2:g.102501G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675505.1:c.422G>A MANE Select | ENSP00000501694.1:p.Ser141Asn | |
| ENST00000269445.10:c.422G>A | ENSP00000269445.6:p.Ser141Asn | |
| ENST00000418472.6:c.*24G>A | ENSP00000415292.2:n.*24G>A | |
| ENST00000442713.6:c.193+28360G>A | ENSP00000395942.2:n.193+28360G>A | |
| ENST00000578396.1:c.-44G>A | ENSP00000463892.1:n.-44G>A | |
| ENST00000578596.5:n.546G>A | ||
| ENST00000581738.5:c.-44G>A | ENSP00000464183.1:n.-44G>A | |
| ENST00000583225.5:c.-44G>A | ENSP00000464653.1:n.-44G>A | |
| ENST00000583280.5:c.-44G>A | ENSP00000462466.1:n.-44G>A | |
| ENST00000584983.5:c.-44G>A | ENSP00000461989.1:n.-44G>A | |
| NM_017653.3:c.422G>A | NP_060123.3:p.Ser141Asn | |
| XM_006722488.2:c.422G>A | XP_006722551.1:p.Ser141Asn | |
| XM_006722490.2:c.422G>A | XP_006722553.1:p.Ser141Asn | |
| XM_006722491.1:c.422G>A | XP_006722554.1:p.Ser141Asn | |
| XM_006722492.2:c.422G>A | XP_006722555.1:p.Ser141Asn | |
| XM_011526036.1:c.422G>A | XP_011524338.1:p.Ser141Asn | |
| XM_011526037.1:c.419G>A | XP_011524339.1:p.Ser140Asn | |
| XM_011526038.1:c.422G>A | XP_011524340.1:p.Ser141Asn | |
| XM_011526039.1:c.422G>A | XP_011524341.1:p.Ser141Asn | |
| XM_011526040.1:c.254G>A | XP_011524342.1:p.Ser85Asn | |
| XM_011526041.1:c.422G>A | XP_011524343.1:p.Ser141Asn | |
| XM_011526042.1:c.422G>A | XP_011524344.1:p.Ser141Asn | |
| XM_011526043.1:c.422G>A | XP_011524345.1:p.Ser141Asn | |
| NM_001353210.1:c.422G>A | NP_001340139.1:p.Ser141Asn | |
| NM_001353211.1:c.419G>A | NP_001340140.1:p.Ser140Asn | |
| NM_001353212.1:c.419G>A | NP_001340141.1:p.Ser140Asn | |
| NM_001353213.1:c.422G>A | NP_001340142.1:p.Ser141Asn | |
| NM_001353214.1:c.422G>A | NP_001340143.1:p.Ser141Asn | |
| NM_001353215.1:c.422G>A | NP_001340144.1:p.Ser141Asn | |
| NM_001353216.1:c.422G>A | NP_001340145.1:p.Ser141Asn | |
| NM_017653.4:c.422G>A | NP_060123.3:p.Ser141Asn | |
| XM_006722488.3:c.422G>A | XP_006722551.1:p.Ser141Asn | |
| XM_006722492.4:c.422G>A | XP_006722555.1:p.Ser141Asn | |
| XM_011526036.2:c.422G>A | XP_011524338.1:p.Ser141Asn | |
| XM_011526038.2:c.422G>A | XP_011524340.1:p.Ser141Asn | |
| XM_011526039.2:c.422G>A | XP_011524341.1:p.Ser141Asn | |
| XM_011526041.2:c.422G>A | XP_011524343.1:p.Ser141Asn | |
| XM_011526042.2:c.422G>A | XP_011524344.1:p.Ser141Asn | |
| XM_017025795.1:c.419G>A | XP_016881284.1:p.Ser140Asn | |
| XM_017025796.2:c.242G>A | XP_016881285.1:p.Ser81Asn | |
| XM_017025800.2:c.422G>A | XP_016881289.1:p.Ser141Asn | |
| XM_017025801.1:c.419G>A | XP_016881290.1:p.Ser140Asn | |
| XR_002958177.1:n.779G>A | ||
| NM_001353210.3:c.422G>A | NP_001340139.1:p.Ser141Asn | |
| NM_001353211.3:c.419G>A | NP_001340140.1:p.Ser140Asn | |
| NM_001353212.3:c.419G>A | NP_001340141.1:p.Ser140Asn | |
| NM_001353213.3:c.422G>A | NP_001340142.1:p.Ser141Asn | |
| NM_001353214.3:c.422G>A MANE Select | NP_001340143.1:p.Ser141Asn | |
| NM_001353215.3:c.422G>A | NP_001340144.1:p.Ser141Asn | |
| NM_001353216.3:c.422G>A | NP_001340145.1:p.Ser141Asn | |
| NM_001374428.1:c.422G>A | NP_001361357.1:p.Ser141Asn | |
| NM_001374429.1:c.419G>A | NP_001361358.1:p.Ser140Asn | |
| NM_001374430.1:c.422G>A | NP_001361359.1:p.Ser141Asn | |
| NM_001374431.1:c.422G>A | NP_001361360.1:p.Ser141Asn | |
| NM_001374432.1:c.422G>A | NP_001361361.1:p.Ser141Asn | |
| NM_001374433.1:c.422G>A | NP_001361362.1:p.Ser141Asn | |
| NM_001374434.1:c.422G>A | NP_001361363.1:p.Ser141Asn | |
| NM_001374435.1:c.422G>A | NP_001361364.1:p.Ser141Asn | |
| NM_001374436.1:c.422G>A | NP_001361365.1:p.Ser141Asn | |
| NM_001374437.1:c.422G>A | NP_001361366.1:p.Ser141Asn | |
| NM_001374438.1:c.422G>A | NP_001361367.1:p.Ser141Asn | |
| NM_001374439.1:c.419G>A | NP_001361368.1:p.Ser140Asn | |
| NM_001374440.1:c.194G>A | NP_001361369.1:p.Gly65Asp | |
| NM_001374441.1:c.193+28360G>A | NP_001361370.1:n.193+28360G>A | |
| NM_001374442.1:c.193+28360G>A | NP_001361371.1:n.193+28360G>A | |
| NM_001374443.1:c.193+28360G>A | NP_001361372.1:n.193+28360G>A | |
| NM_001374444.1:c.193+28360G>A | NP_001361373.1:n.193+28360G>A | |
| NM_017653.6:c.422G>A | NP_060123.3:p.Ser141Asn |