Linked Data
dbSNP Id:
rs748421500
gnomAD v2:
1-153963720-A-C
gnomAD v3:
1-153991244-A-C
gnomAD v4:
1-153991244-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991244A>C , CM000663.2:g.153991244A>C | GRCh38 |
| NC_000001.10:g.153963720A>C , CM000663.1:g.153963720A>C | GRCh37 |
| NC_000001.9:g.152230344A>C | NCBI36 |
| NG_053102.2:g.5490A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.303+21A>C | ||
| ENST00000643794.1:c.236+21A>C | ENSP00000495765.1:n.236+21A>C | |
| ENST00000651669.1:c.115+21A>C MANE Select | ENSP00000499044.1:n.115+21A>C | |
| ENST00000368567.4:c.115+21A>C | ENSP00000357555.4:n.115+21A>C | |
| ENST00000392558.4:c.136A>C | ENSP00000376341.4:p.Ser46Arg | |
| ENST00000477151.1:n.270+21A>C | ||
| ENST00000493224.5:n.381+21A>C | ||
| NM_001030.4:c.115+21A>C | NP_001021.1:n.115+21A>C | |
| NM_001030.6:c.115+21A>C MANE Select | NP_001021.1:n.115+21A>C | |
| NM_001349946.1:c.19+21A>C | NP_001336875.1:n.19+21A>C | |
| NM_001349947.1:c.19+21A>C | NP_001336876.1:n.19+21A>C | |
| NM_001349946.2:c.19+21A>C | NP_001336875.1:n.19+21A>C | |
| NM_001349947.2:c.19+21A>C | NP_001336876.1:n.19+21A>C |