Linked Data
ClinVar Variation Id:
241343
ClinVar RCV Id:
RCV000369018
RCV000263785
RCV000300341
RCV000273369
RCV000566200
RCV000679726
RCV001082755
RCV000616095
dbSNP Id:
rs145122337
ExAC:
10:43610100 G / A
gnomAD v2:
10-43610100-G-A
gnomAD v3:
10-43114652-G-A
gnomAD v4:
10-43114652-G-A
PubMed:
PMID:28946813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114652G>A , CM000672.2:g.43114652G>A | GRCh38 |
| NC_000010.10:g.43610100G>A , CM000672.1:g.43610100G>A | GRCh37 |
| NC_000010.9:g.42930106G>A | NCBI36 |
| NG_007489.1:g.42584G>A , LRG_518:g.42584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1656G>A | ENSP00000480088.2:p.Pro552= | |
| ENST00000683007.1:n.1626G>A | ||
| ENST00000683872.1:n.1617G>A | ||
| ENST00000340058.6:c.2052G>A | ENSP00000344798.4:p.Pro684= | |
| ENST00000355710.8:c.2052G>A MANE Select | ENSP00000347942.3:p.Pro684= | |
| ENST00000671844.1:c.*646G>A | ENSP00000500541.1:n.*646G>A | |
| ENST00000672389.1:c.*646G>A | ENSP00000500252.1:n.*646G>A | |
| ENST00000340058.5:c.2052G>A | ENSP00000344798.4:p.Pro684= | |
| ENST00000355710.7:c.2052G>A | ENSP00000347942.3:p.Pro684= | |
| ENST00000615310.4:c.1289+3420G>A | ENSP00000480088.1:n.1289+3420G>A | |
| NM_020630.4:c.2052G>A , LRG_518t2:c.2052G>A | NP_065681.1:p.Pro684= | |
| NM_020975.4:c.2052G>A , LRG_518t1:c.2052G>A | NP_066124.1:p.Pro684= | |
| XM_011540027.1:c.2052G>A | XP_011538329.1:p.Pro684= | |
| NM_001355216.1:c.1290G>A | NP_001342145.1:p.Pro430= | |
| NM_020630.5:c.2052G>A | NP_065681.1:p.Pro684= | |
| NM_020975.5:c.2052G>A | NP_066124.1:p.Pro684= | |
| NM_020975.6:c.2052G>A MANE Select | NP_066124.1:p.Pro684= | |
| NM_020630.6:c.2052G>A | NP_065681.1:p.Pro684= |