Linked Data
ClinVar Variation Id:
304216
ClinVar RCV Id:
RCV000302203
RCV000305874
RCV000360571
RCV000394457
RCV000399547
RCV001093927
RCV001843044
RCV001718615
dbSNP Id:
rs201682200
ExAC:
11:2549151 C / T
gnomAD v2:
11-2549151-C-T
gnomAD v3:
11-2527921-C-T
gnomAD v4:
11-2527921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527921C>T , CM000673.2:g.2527921C>T | GRCh38 |
| NC_000011.9:g.2549151C>T , CM000673.1:g.2549151C>T | GRCh37 |
| NC_000011.8:g.2505727C>T | NCBI36 |
| NG_008935.1:g.87931C>T , LRG_287:g.87931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380776.5:n.184-7C>T | ||
| ENST00000496887.7:c.126-7C>T | ENSP00000434560.2:n.126-7C>T | |
| ENST00000646564.2:c.387-7C>T | ENSP00000495806.2:n.387-7C>T | |
| ENST00000155840.12:c.387-7C>T MANE Select | ENSP00000155840.2:n.387-7C>T | |
| ENST00000335475.6:c.6-7C>T | ENSP00000334497.5:n.6-7C>T | |
| ENST00000646564.1:c.33-7C>T | ENSP00000495806.1:n.33-7C>T | |
| ENST00000155840.9:c.387-7C>T | ENSP00000155840.2:n.387-7C>T | |
| ENST00000335475.5:c.6-7C>T | ENSP00000334497.5:n.6-7C>T | |
| ENST00000345015.4:n.256-7C>T | ||
| ENST00000380776.4:c.177-7C>T | ENSP00000370153.4:n.177-7C>T | |
| ENST00000496887.6:c.126-7C>T | ENSP00000434560.1:n.126-7C>T | |
| NM_000218.2:c.387-7C>T , LRG_287t1:c.387-7C>T | NP_000209.2:n.387-7C>T | |
| NM_181798.1:c.6-7C>T , LRG_287t2:c.6-7C>T | NP_861463.1:n.6-7C>T | |
| NM_000218.3:c.387-7C>T MANE Select | NP_000209.2:n.387-7C>T |