Linked Data
dbSNP Id:
rs755336253
gnomAD v2:
3-150658321-G-T
gnomAD v3:
3-150940534-G-T
gnomAD v4:
3-150940534-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150940534G>T , CM000665.2:g.150940534G>T | GRCh38 |
| NC_000003.11:g.150658321G>T , CM000665.1:g.150658321G>T | GRCh37 |
| NC_000003.10:g.152141011G>T | NCBI36 |
| NG_009168.1:g.37466C>A , LRG_700:g.37466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.433+1048C>A MANE Select | ENSP00000322280.1:n.433+1048C>A | |
| ENST00000468836.2:c.581+1048C>A | ENSP00000419892.2:n.581+1048C>A | |
| ENST00000644099.1:c.426-15C>A | ENSP00000494762.1:n.426-15C>A | |
| ENST00000295911.6:c.205+1048C>A | ENSP00000295911.2:n.205+1048C>A | |
| ENST00000327047.5:c.433+1048C>A | ENSP00000322280.1:n.433+1048C>A | |
| ENST00000328863.8:c.434-15C>A | ENSP00000329158.4:n.434-15C>A | |
| ENST00000468836.1:c.205+1048C>A | ENSP00000419892.1:n.205+1048C>A | |
| ENST00000485607.1:c.97+1048C>A | ENSP00000419244.1:n.97+1048C>A | |
| ENST00000562308.5:c.104+1048C>A | ||
| ENST00000565169.1:c.162+1048C>A | ||
| ENST00000569170.5:c.162+1048C>A | ||
| NM_001195794.1:c.434-15C>A , LRG_700t1:c.434-15C>A | NP_001182723.1:n.434-15C>A | |
| NM_001256819.1:c.*47+1048C>A | NP_001243748.1:n.*47+1048C>A | |
| NM_052995.2:c.205+1048C>A , LRG_700t2:c.205+1048C>A | NP_443721.1:n.205+1048C>A | |
| NM_174878.2:c.433+1048C>A | NP_777367.1:n.433+1048C>A | |
| NR_046380.2:n.876-15C>A | ||
| XR_924167.1:n.745+1048C>A | ||
| NM_001256819.2:c.*47+1048C>A | NP_001243748.1:n.*47+1048C>A | |
| NM_174878.3:c.433+1048C>A MANE Select | NP_777367.1:n.433+1048C>A | |
| NR_046380.3:n.604-15C>A |