Linked Data
ClinVar Variation Id:
3027
ClinVar RCV Id:
RCV000003166
RCV000116423
RCV000123734
RCV000203947
RCV000224788
RCV002225257
RCV001797989
RCV002221465
dbSNP Id:
rs3092857
ExAC:
11:108143299 A / G
gnomAD v2:
11-108143299-A-G
gnomAD v3:
11-108272572-A-G
gnomAD v4:
11-108272572-A-G
COSMIC:
COSM22486
PubMed:
PMID:9288106
PMID:9622061
PMID:12935933
PMID:17640065
PMID:20305132
PMID:22529920
PMID:24728327
PMID:25480502
PMID:25625042
ERepo:
CA151920/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108272572A>G , CM000673.2:g.108272572A>G | GRCh38 |
| NC_000011.9:g.108143299A>G , CM000673.1:g.108143299A>G | GRCh37 |
| NC_000011.8:g.107648509A>G | NCBI36 |
| NG_009830.1:g.54741A>G , LRG_135:g.54741A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3118A>G | ENSP00000388058.2:p.Met1040Val | |
| ENST00000713593.1:c.*2589A>G | ENSP00000518889.1:n.*2589A>G | |
| ENST00000278616.9:c.3118A>G | ENSP00000278616.4:p.Met1040Val | |
| ENST00000683174.1:n.3268A>G | ||
| ENST00000527805.6:c.3118A>G | ENSP00000435747.2:p.Met1040Val | |
| ENST00000675595.1:c.2953A>G | ENSP00000502563.1:p.Met985Val | |
| ENST00000675843.1:c.3118A>G MANE Select | ENSP00000501606.1:p.Met1040Val | |
| ENST00000278616.8:c.3118A>G | ENSP00000278616.4:p.Met1040Val | |
| ENST00000452508.6:c.3118A>G | ENSP00000388058.2:p.Met1040Val | |
| ENST00000527805.5:c.3118A>G | ENSP00000435747.1:p.Met1040Val | |
| NM_000051.3:c.3118A>G , LRG_135t1:c.3118A>G | NP_000042.3:p.Met1040Val | |
| XM_005271561.3:c.3118A>G | XP_005271618.2:p.Met1040Val | |
| XM_005271562.3:c.3118A>G | XP_005271619.2:p.Met1040Val | |
| XM_006718843.2:c.3118A>G | XP_006718906.1:p.Met1040Val | |
| XM_011542840.1:c.3118A>G | XP_011541142.1:p.Met1040Val | |
| XM_011542841.1:c.3118A>G | XP_011541143.1:p.Met1040Val | |
| XM_011542842.1:c.2953A>G | XP_011541144.1:p.Met985Val | |
| XM_011542843.1:c.3118A>G | XP_011541145.1:p.Met1040Val | |
| XM_011542844.1:c.2074A>G | XP_011541146.1:p.Met692Val | |
| XM_011542845.1:c.1810A>G | XP_011541147.1:p.Met604Val | |
| XM_011542846.1:c.3118A>G | XP_011541148.1:p.Met1040Val | |
| NM_001351834.1:c.3118A>G | NP_001338763.1:p.Met1040Val | |
| XM_005271562.5:c.3118A>G | XP_005271619.2:p.Met1040Val | |
| XM_006718843.4:c.3118A>G | XP_006718906.1:p.Met1040Val | |
| XM_011542840.3:c.3118A>G | XP_011541142.1:p.Met1040Val | |
| XM_011542842.3:c.2953A>G | XP_011541144.1:p.Met985Val | |
| XM_011542843.2:c.3118A>G | XP_011541145.1:p.Met1040Val | |
| XM_011542844.3:c.2074A>G | XP_011541146.1:p.Met692Val | |
| XM_011542845.2:c.1810A>G | XP_011541147.1:p.Met604Val | |
| XM_017017789.2:c.3118A>G | XP_016873278.1:p.Met1040Val | |
| XM_017017790.2:c.3118A>G | XP_016873279.1:p.Met1040Val | |
| XM_017017791.1:c.3118A>G | XP_016873280.1:p.Met1040Val | |
| XM_017017792.2:c.3118A>G | XP_016873281.1:p.Met1040Val | |
| XR_002957150.1:n.3851A>G | ||
| NM_001351834.2:c.3118A>G | NP_001338763.1:p.Met1040Val | |
| NM_000051.4:c.3118A>G MANE Select | NP_000042.3:p.Met1040Val |