Linked Data
ClinVar Variation Id:
477377
ClinVar RCV Id:
RCV000679752
RCV001023187
RCV001103797
RCV001103796
RCV001105727
RCV001103795
RCV001084075
dbSNP Id:
rs371153966
ExAC:
10:43597939 C / A
gnomAD v2:
10-43597939-C-A
gnomAD v3:
10-43102491-C-A
gnomAD v4:
10-43102491-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43102491C>A , CM000672.2:g.43102491C>A | GRCh38 |
| NC_000010.10:g.43597939C>A , CM000672.1:g.43597939C>A | GRCh37 |
| NC_000010.9:g.42917945C>A | NCBI36 |
| NG_007489.1:g.30423C>A , LRG_518:g.30423C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.487C>A | ENSP00000480088.2:p.Arg163= | |
| ENST00000683278.1:c.408C>A | ||
| ENST00000684216.1:c.389C>A | ||
| ENST00000340058.6:c.487C>A | ENSP00000344798.4:p.Arg163= | |
| ENST00000355710.8:c.487C>A MANE Select | ENSP00000347942.3:p.Arg163= | |
| ENST00000638465.1:c.429C>A | ||
| ENST00000640619.1:c.260C>A | ||
| ENST00000671844.1:c.487C>A | ENSP00000500541.1:p.Arg163= | |
| ENST00000672389.1:c.74-8716C>A | ENSP00000500252.1:n.74-8716C>A | |
| ENST00000340058.5:c.487C>A | ENSP00000344798.4:p.Arg163= | |
| ENST00000355710.7:c.487C>A | ENSP00000347942.3:p.Arg163= | |
| ENST00000498820.5:c.74-9608C>A | ENSP00000419080.1:n.74-9608C>A | |
| ENST00000615310.4:c.487C>A | ENSP00000480088.1:p.Arg163= | |
| NM_020630.4:c.487C>A , LRG_518t2:c.487C>A | NP_065681.1:p.Arg163= | |
| NM_020975.4:c.487C>A , LRG_518t1:c.487C>A | NP_066124.1:p.Arg163= | |
| XM_011540027.1:c.487C>A | XP_011538329.1:p.Arg163= | |
| NM_020630.5:c.487C>A | NP_065681.1:p.Arg163= | |
| NM_020975.5:c.487C>A | NP_066124.1:p.Arg163= | |
| NM_020975.6:c.487C>A MANE Select | NP_066124.1:p.Arg163= | |
| NM_020630.6:c.487C>A | NP_065681.1:p.Arg163= |