Linked Data
ClinVar Variation Id:
877469
ClinVar RCV Id:
RCV001103200
dbSNP Id:
rs1864986117
gnomAD v4:
11-119677844-A-G
MyVariant Identifiers:
chr11:g.119548554A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119677844A>G , CM000673.2:g.119677844A>G | GRCh38 |
| NC_000011.9:g.119548554A>G , CM000673.1:g.119548554A>G | GRCh37 |
| NC_000011.8:g.119053764A>G | NCBI36 |
| NG_013083.1:g.55882T>C | |
| NG_013083.2:g.55882T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531468.2:c.444T>C | ENSP00000513010.1:p.Asn148= | |
| ENST00000264025.8:c.444T>C MANE Select | ENSP00000264025.3:p.Asn148= | |
| ENST00000264025.7:c.444T>C | ENSP00000264025.3:p.Asn148= | |
| ENST00000340882.2:c.444T>C | ENSP00000345289.2:p.Asn148= | |
| ENST00000341398.6:c.444T>C | ENSP00000344974.2:p.Asn148= | |
| ENST00000524510.1:n.418T>C | ||
| NM_002855.4:c.444T>C | NP_002846.3:p.Asn148= | |
| NM_203285.1:c.444T>C | NP_976030.1:p.Asn148= | |
| NM_203286.1:c.444T>C | NP_976031.1:p.Asn148= | |
| NM_002855.5:c.444T>C MANE Select | NP_002846.3:p.Asn148= | |
| NM_203285.2:c.444T>C | NP_976030.1:p.Asn148= | |
| NM_203286.2:c.444T>C | NP_976031.1:p.Asn148= |