Linked Data
ClinVar Variation Id:
64615
ClinVar RCV Id:
RCV000054802
RCV000158446
RCV000171835
RCV000777724
RCV000988540
RCV002453366
RCV002483080
dbSNP Id:
rs371401403
ExAC:
11:47357547 G / A
gnomAD v2:
11-47357547-G-A
gnomAD v3:
11-47335996-G-A
gnomAD v4:
11-47335996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335996G>A , CM000673.2:g.47335996G>A | GRCh38 |
| NC_000011.9:g.47357547G>A , CM000673.1:g.47357547G>A | GRCh37 |
| NC_000011.8:g.47314123G>A | NCBI36 |
| NG_007667.1:g.21707C>T , LRG_386:g.21707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2618C>T MANE Select | ENSP00000442795.1:p.Pro873Leu | |
| ENST00000256993.8:c.2618C>T | ENSP00000256993.5:p.Pro873Leu | |
| ENST00000399249.6:c.2618C>T | ENSP00000382193.2:p.Pro873Leu | |
| ENST00000544791.1:c.*123C>T | ENSP00000444259.1:n.*123C>T | |
| ENST00000545968.5:c.2618C>T | ENSP00000442795.1:p.Pro873Leu | |
| NM_000256.3:c.2618C>T , LRG_386t1:c.2618C>T MANE Select | NP_000247.2:p.Pro873Leu | |
| XM_011520117.1:c.2600C>T | XP_011518419.1:p.Pro867Leu | |
| XM_011520118.1:c.2537C>T | XP_011518420.1:p.Pro846Leu |