Linked Data
dbSNP Id:
rs1031033174
gnomAD v2:
3-150658317-A-C
gnomAD v3:
3-150940530-A-C
gnomAD v4:
3-150940530-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150940530A>C , CM000665.2:g.150940530A>C | GRCh38 |
| NC_000003.11:g.150658317A>C , CM000665.1:g.150658317A>C | GRCh37 |
| NC_000003.10:g.152141007A>C | NCBI36 |
| NG_009168.1:g.37470T>G , LRG_700:g.37470T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.433+1052T>G MANE Select | ENSP00000322280.1:n.433+1052T>G | |
| ENST00000468836.2:c.581+1052T>G | ENSP00000419892.2:n.581+1052T>G | |
| ENST00000644099.1:c.426-11T>G | ENSP00000494762.1:n.426-11T>G | |
| ENST00000295911.6:c.205+1052T>G | ENSP00000295911.2:n.205+1052T>G | |
| ENST00000327047.5:c.433+1052T>G | ENSP00000322280.1:n.433+1052T>G | |
| ENST00000328863.8:c.434-11T>G | ENSP00000329158.4:n.434-11T>G | |
| ENST00000468836.1:c.205+1052T>G | ENSP00000419892.1:n.205+1052T>G | |
| ENST00000485607.1:c.97+1052T>G | ENSP00000419244.1:n.97+1052T>G | |
| ENST00000562308.5:c.104+1052T>G | ||
| ENST00000565169.1:c.162+1052T>G | ||
| ENST00000569170.5:c.162+1052T>G | ||
| NM_001195794.1:c.434-11T>G , LRG_700t1:c.434-11T>G | NP_001182723.1:n.434-11T>G | |
| NM_001256819.1:c.*47+1052T>G | NP_001243748.1:n.*47+1052T>G | |
| NM_052995.2:c.205+1052T>G , LRG_700t2:c.205+1052T>G | NP_443721.1:n.205+1052T>G | |
| NM_174878.2:c.433+1052T>G | NP_777367.1:n.433+1052T>G | |
| NR_046380.2:n.876-11T>G | ||
| XR_924167.1:n.745+1052T>G | ||
| NM_001256819.2:c.*47+1052T>G | NP_001243748.1:n.*47+1052T>G | |
| NM_174878.3:c.433+1052T>G MANE Select | NP_777367.1:n.433+1052T>G | |
| NR_046380.3:n.604-11T>G |