Linked Data
ClinVar Variation Id:
2852414
ClinVar RCV Id:
RCV003608298
dbSNP Id:
rs756730322
ExAC:
2:31754533 T / A
gnomAD v2:
2-31754533-T-A
gnomAD v3:
2-31529463-T-A
gnomAD v4:
2-31529463-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529463T>A , CM000664.2:g.31529463T>A | GRCh38 |
| NC_000002.11:g.31754533T>A , CM000664.1:g.31754533T>A | GRCh37 |
| NC_000002.10:g.31608037T>A | NCBI36 |
| NG_008365.1:g.56509A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.548-6A>T MANE Select | ENSP00000477587.1:n.548-6A>T | |
| ENST00000622030.1:c.548-6A>T | ENSP00000477587.1:n.548-6A>T | |
| NM_000348.3:c.548-6A>T | NP_000339.2:n.548-6A>T | |
| XM_011533069.1:c.326-6A>T | XP_011531371.1:n.326-6A>T | |
| XM_011533070.1:c.293-6A>T | XP_011531372.1:n.293-6A>T | |
| XM_011533071.1:c.293-6A>T | XP_011531373.1:n.293-6A>T | |
| XM_011533072.1:c.293-6A>T | XP_011531374.1:n.293-6A>T | |
| XM_011533069.2:c.326-6A>T | XP_011531371.1:n.326-6A>T | |
| XM_011533072.2:c.293-6A>T | XP_011531374.1:n.293-6A>T | |
| NM_000348.4:c.548-6A>T MANE Select | NP_000339.2:n.548-6A>T |