Linked Data
ClinVar Variation Id:
794894
ClinVar RCV Id:
RCV000978183
dbSNP Id:
rs147904521
ExAC:
3:150661608 T / G
gnomAD v2:
3-150661608-T-G
gnomAD v3:
3-150943821-T-G
gnomAD v4:
3-150943821-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150943821T>G , CM000665.2:g.150943821T>G | GRCh38 |
| NC_000003.11:g.150661608T>G , CM000665.1:g.150661608T>G | GRCh37 |
| NC_000003.10:g.152144298T>G | NCBI36 |
| NG_009168.1:g.34179A>C , LRG_700:g.34179A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.254-2060A>C MANE Select | ENSP00000322280.1:n.254-2060A>C | |
| ENST00000468836.2:c.400A>C | ENSP00000419892.2:p.Ser134Arg | |
| ENST00000644099.1:c.245+1708A>C | ENSP00000494762.1:n.245+1708A>C | |
| ENST00000645441.1:c.417A>C | ||
| ENST00000295911.6:c.24A>C | ENSP00000295911.2:p.Pro8= | |
| ENST00000327047.5:c.254-2060A>C | ENSP00000322280.1:n.254-2060A>C | |
| ENST00000328863.8:c.254-2060A>C | ENSP00000329158.4:n.254-2060A>C | |
| ENST00000468836.1:c.24A>C | ENSP00000419892.1:p.Pro8= | |
| ENST00000472224.1:n.260-2060A>C | ||
| ENST00000485607.1:c.-171A>C | ENSP00000419244.1:n.-171A>C | |
| NM_001195794.1:c.254-2060A>C , LRG_700t1:c.254-2060A>C | NP_001182723.1:n.254-2060A>C | |
| NM_001256819.1:c.424A>C | NP_001243748.1:p.Ser142Arg | |
| NM_052995.2:c.24A>C , LRG_700t2:c.24A>C | NP_443721.1:p.Pro8= | |
| NM_174878.2:c.254-2060A>C | NP_777367.1:n.254-2060A>C | |
| NR_046380.2:n.695+1708A>C | ||
| XR_924167.1:n.566-2060A>C | ||
| NM_001256819.2:c.424A>C | NP_001243748.1:p.Ser142Arg | |
| NM_174878.3:c.254-2060A>C MANE Select | NP_777367.1:n.254-2060A>C | |
| NR_046380.3:n.423+1708A>C |