Linked Data
ClinVar Variation Id:
66990
dbSNP Id:
rs151107532
ExAC:
21:43906573 T / G
gnomAD v2:
21-43906573-T-G
gnomAD v3:
21-42486463-T-G
gnomAD v4:
21-42486463-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42486463T>G , CM000683.2:g.42486463T>G | GRCh38 |
| NC_000021.8:g.43906573T>G , CM000683.1:g.43906573T>G | GRCh37 |
| NC_000021.7:g.42779642T>G | NCBI36 |
| NG_034257.1:g.14892A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291536.8:c.275-2A>C MANE Select | ENSP00000291536.3:n.275-2A>C | |
| ENST00000291536.7:c.275-2A>C | ENSP00000291536.3:n.275-2A>C | |
| ENST00000398352.3:c.161-2A>C | ENSP00000381395.3:n.161-2A>C | |
| ENST00000493019.1:n.335-2A>C | ||
| NM_001286506.1:c.161-2A>C | NP_001273435.1:n.161-2A>C | |
| NM_080860.3:c.275-2A>C | NP_543136.1:n.275-2A>C | |
| XM_005261208.1:c.68-2A>C | XP_005261265.1:n.68-2A>C | |
| XM_011529786.1:c.275-2A>C | XP_011528088.1:n.275-2A>C | |
| XM_005261208.2:c.68-2A>C | XP_005261265.1:n.68-2A>C | |
| NM_080860.4:c.275-2A>C MANE Select | NP_543136.1:n.275-2A>C | |
| NM_001286506.2:c.161-2A>C | NP_001273435.1:n.161-2A>C |