Linked Data
ClinVar Variation Id:
179293
ClinVar RCV Id:
RCV000156082
RCV000227118
RCV001104723
RCV001104724
RCV001104725
RCV001104726
RCV001711425
RCV001842489
RCV002372021
dbSNP Id:
rs727504769
ExAC:
11:2594195 A / C
gnomAD v2:
11-2594195-A-C
gnomAD v3:
11-2572965-A-C
gnomAD v4:
11-2572965-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572965A>C , CM000673.2:g.2572965A>C | GRCh38 |
| NC_000011.9:g.2594195A>C , CM000673.1:g.2594195A>C | GRCh37 |
| NC_000011.8:g.2550771A>C | NCBI36 |
| NG_008935.1:g.132975A>C , LRG_287:g.132975A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.639A>C | ENSP00000434560.2:p.Ala213= | |
| ENST00000646564.2:c.478-10470A>C | ENSP00000495806.2:n.478-10470A>C | |
| ENST00000155840.12:c.900A>C MANE Select | ENSP00000155840.2:p.Ala300= | |
| ENST00000335475.6:c.519A>C | ENSP00000334497.5:p.Ala173= | |
| ENST00000646564.1:c.124-10470A>C | ENSP00000495806.1:n.124-10470A>C | |
| ENST00000155840.9:c.900A>C | ENSP00000155840.2:p.Ala300= | |
| ENST00000335475.5:c.519A>C | ENSP00000334497.5:p.Ala173= | |
| NM_000218.2:c.900A>C , LRG_287t1:c.900A>C | NP_000209.2:p.Ala300= | |
| NM_181798.1:c.519A>C , LRG_287t2:c.519A>C | NP_861463.1:p.Ala173= | |
| NM_000218.3:c.900A>C MANE Select | NP_000209.2:p.Ala300= |