Linked Data
ClinVar Variation Id:
341333
ClinVar RCV Id:
RCV000311803
dbSNP Id:
rs561308691
gnomAD v2:
22-33197517-C-A
gnomAD v3:
22-32801531-C-A
gnomAD v4:
22-32801531-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32801531C>A , CM000684.2:g.32801531C>A | GRCh38 |
| NC_000022.10:g.33197517C>A , CM000684.1:g.33197517C>A | GRCh37 |
| NC_000022.9:g.31527517C>A | NCBI36 |
| NG_009117.1:g.5716C>A | |
| NG_029545.1:g.261861G>T | |
| NG_009117.2:g.4827C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358763.7:c.711+63384G>T (SYN3) MANE Select | ENSP00000351614.2:n.711+63384G>T | |
| ENST00000358763.6:c.711+63384G>T (SYN3) | ENSP00000351614.2:n.711+63384G>T | |
| ENST00000462268.1:n.225+63384G>T (SYN3) | ||
| NM_000362.4:c.-471C>A (TIMP3) | NP_000353.1:n.-471C>A | |
| NM_001135774.1:c.708+63384G>T (SYN3) | NP_001129246.1:n.708+63384G>T | |
| NM_003490.3:c.711+63384G>T (SYN3) | NP_003481.3:n.711+63384G>T | |
| NM_133633.2:c.711+63384G>T (SYN3) | NP_598344.2:n.711+63384G>T | |
| XM_011530405.1:c.711+63384G>T (SYN3) | XP_011528707.1:n.711+63384G>T | |
| XM_011530406.1:c.711+63384G>T (SYN3) | XP_011528708.1:n.711+63384G>T | |
| XM_011530407.1:c.711+63384G>T (SYN3) | XP_011528709.1:n.711+63384G>T | |
| XM_011530408.1:c.711+63384G>T (SYN3) | XP_011528710.1:n.711+63384G>T | |
| XM_011530409.1:c.711+63384G>T (SYN3) | XP_011528711.1:n.711+63384G>T | |
| XM_011530410.1:c.357+63384G>T (SYN3) | XP_011528712.1:n.357+63384G>T | |
| XM_011530411.1:c.711+63384G>T (SYN3) | XP_011528713.1:n.711+63384G>T | |
| XM_011530413.1:c.711+63384G>T (SYN3) | XP_011528715.1:n.711+63384G>T | |
| XM_011530414.1:c.711+63384G>T (SYN3) | XP_011528716.1:n.711+63384G>T | |
| XR_937927.1:n.1195+63384G>T (SYN3) | ||
| XM_011530405.3:c.711+63384G>T (SYN3) | XP_011528707.1:n.711+63384G>T | |
| XM_011530406.3:c.711+63384G>T (SYN3) | XP_011528708.1:n.711+63384G>T | |
| XM_011530407.3:c.711+63384G>T (SYN3) | XP_011528709.1:n.711+63384G>T | |
| XM_011530408.2:c.711+63384G>T (SYN3) | XP_011528710.1:n.711+63384G>T | |
| XM_011530410.3:c.357+63384G>T (SYN3) | XP_011528712.1:n.357+63384G>T | |
| XM_017028961.2:c.711+63384G>T (SYN3) | XP_016884450.1:n.711+63384G>T | |
| XM_017028962.2:c.711+63384G>T (SYN3) | XP_016884451.1:n.711+63384G>T | |
| XM_017028963.2:c.711+63384G>T (SYN3) | XP_016884452.1:n.711+63384G>T | |
| XM_017028964.2:c.708+63384G>T (SYN3) | XP_016884453.1:n.708+63384G>T | |
| XR_001755317.2:n.948+63384G>T (SYN3) | ||
| NM_001135774.2:c.708+63384G>T (SYN3) | NP_001129246.1:n.708+63384G>T | |
| NM_001369907.1:c.711+63384G>T (SYN3) | NP_001356836.1:n.711+63384G>T | |
| NM_001369908.1:c.711+63384G>T (SYN3) | NP_001356837.1:n.711+63384G>T | |
| NM_001369909.1:c.708+63384G>T (SYN3) | NP_001356838.1:n.708+63384G>T | |
| NM_001369910.1:c.708+63384G>T (SYN3) | NP_001356839.1:n.708+63384G>T | |
| NM_003490.4:c.711+63384G>T (SYN3) MANE Select | NP_003481.3:n.711+63384G>T | |
| NM_133633.3:c.711+63384G>T (SYN3) | NP_598344.2:n.711+63384G>T |