Linked Data
dbSNP Id:
rs1360908385
gnomAD v2:
1-43395993-G-A
gnomAD v3:
1-42930322-G-A
gnomAD v4:
1-42930322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930322G>A , CM000663.2:g.42930322G>A | GRCh38 |
| NC_000001.10:g.43395993G>A , CM000663.1:g.43395993G>A | GRCh37 |
| NC_000001.9:g.43168580G>A | NCBI36 |
| NG_008232.1:g.33855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.517-287C>T MANE Select | ENSP00000416293.2:n.517-287C>T | |
| ENST00000674765.1:c.517-287C>T | ENSP00000501811.1:n.517-287C>T | |
| ENST00000675112.1:n.540-287C>T | ||
| ENST00000676254.1:n.966-287C>T | ||
| ENST00000426263.7:c.517-287C>T | ENSP00000416293.2:n.517-287C>T | |
| ENST00000439722.2:c.396-287C>T | ENSP00000395521.2:n.396-287C>T | |
| ENST00000475162.3:c.415+304C>T | ||
| ENST00000625233.2:n.1028C>T | ||
| ENST00000630287.2:c.516+304C>T | ENSP00000486694.1:n.516+304C>T | |
| NM_006516.2:c.517-287C>T | NP_006507.2:n.517-287C>T | |
| NM_006516.3:c.517-287C>T | NP_006507.2:n.517-287C>T | |
| NM_006516.4:c.517-287C>T MANE Select | NP_006507.2:n.517-287C>T |