Linked Data
ClinVar Variation Id:
127366
ClinVar RCV Id:
RCV000115171
RCV000194529
RCV000515446
RCV000588986
RCV001079613
RCV001354960
RCV002291557
RCV004549545
RCV003492454
dbSNP Id:
rs146531614
ExAC:
11:108142070 A / G
gnomAD v2:
11-108142070-A-G
gnomAD v3:
11-108271343-A-G
gnomAD v4:
11-108271343-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108271343A>G , CM000673.2:g.108271343A>G | GRCh38 |
| NC_000011.9:g.108142070A>G , CM000673.1:g.108142070A>G | GRCh37 |
| NC_000011.8:g.107647280A>G | NCBI36 |
| NG_009830.1:g.53512A>G , LRG_135:g.53512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3014A>G | ENSP00000388058.2:p.Asn1005Ser | |
| ENST00000713593.1:c.*2485A>G | ENSP00000518889.1:n.*2485A>G | |
| ENST00000278616.9:c.3014A>G | ENSP00000278616.4:p.Asn1005Ser | |
| ENST00000682516.1:n.2948A>G | ||
| ENST00000683174.1:n.3164A>G | ||
| ENST00000684037.1:c.*1749A>G | ENSP00000508245.1:n.*1749A>G | |
| ENST00000527805.6:c.3014A>G | ENSP00000435747.2:p.Asn1005Ser | |
| ENST00000675595.1:c.2849A>G | ENSP00000502563.1:p.Asn950Ser | |
| ENST00000675843.1:c.3014A>G MANE Select | ENSP00000501606.1:p.Asn1005Ser | |
| ENST00000278616.8:c.3014A>G | ENSP00000278616.4:p.Asn1005Ser | |
| ENST00000419286.2:n.293A>G | ||
| ENST00000452508.6:c.3014A>G | ENSP00000388058.2:p.Asn1005Ser | |
| ENST00000527805.5:c.3014A>G | ENSP00000435747.1:p.Asn1005Ser | |
| NM_000051.3:c.3014A>G , LRG_135t1:c.3014A>G | NP_000042.3:p.Asn1005Ser | |
| XM_005271561.3:c.3014A>G | XP_005271618.2:p.Asn1005Ser | |
| XM_005271562.3:c.3014A>G | XP_005271619.2:p.Asn1005Ser | |
| XM_006718843.2:c.3014A>G | XP_006718906.1:p.Asn1005Ser | |
| XM_011542840.1:c.3014A>G | XP_011541142.1:p.Asn1005Ser | |
| XM_011542841.1:c.3014A>G | XP_011541143.1:p.Asn1005Ser | |
| XM_011542842.1:c.2849A>G | XP_011541144.1:p.Asn950Ser | |
| XM_011542843.1:c.3014A>G | XP_011541145.1:p.Asn1005Ser | |
| XM_011542844.1:c.1970A>G | XP_011541146.1:p.Asn657Ser | |
| XM_011542845.1:c.1706A>G | XP_011541147.1:p.Asn569Ser | |
| XM_011542846.1:c.3014A>G | XP_011541148.1:p.Asn1005Ser | |
| NM_001351834.1:c.3014A>G | NP_001338763.1:p.Asn1005Ser | |
| XM_005271562.5:c.3014A>G | XP_005271619.2:p.Asn1005Ser | |
| XM_006718843.4:c.3014A>G | XP_006718906.1:p.Asn1005Ser | |
| XM_011542840.3:c.3014A>G | XP_011541142.1:p.Asn1005Ser | |
| XM_011542842.3:c.2849A>G | XP_011541144.1:p.Asn950Ser | |
| XM_011542843.2:c.3014A>G | XP_011541145.1:p.Asn1005Ser | |
| XM_011542844.3:c.1970A>G | XP_011541146.1:p.Asn657Ser | |
| XM_011542845.2:c.1706A>G | XP_011541147.1:p.Asn569Ser | |
| XM_017017789.2:c.3014A>G | XP_016873278.1:p.Asn1005Ser | |
| XM_017017790.2:c.3014A>G | XP_016873279.1:p.Asn1005Ser | |
| XM_017017791.1:c.3014A>G | XP_016873280.1:p.Asn1005Ser | |
| XM_017017792.2:c.3014A>G | XP_016873281.1:p.Asn1005Ser | |
| XR_002957150.1:n.3747A>G | ||
| NM_001351834.2:c.3014A>G | NP_001338763.1:p.Asn1005Ser | |
| NM_000051.4:c.3014A>G MANE Select | NP_000042.3:p.Asn1005Ser |