Linked Data
ClinVar Variation Id:
1601145
ClinVar RCV Id:
RCV002136768
dbSNP Id:
rs28383063
ExAC:
2:31754545 G / A
gnomAD v2:
2-31754545-G-A
gnomAD v3:
2-31529475-G-A
gnomAD v4:
2-31529475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529475G>A , CM000664.2:g.31529475G>A | GRCh38 |
| NC_000002.11:g.31754545G>A , CM000664.1:g.31754545G>A | GRCh37 |
| NC_000002.10:g.31608049G>A | NCBI36 |
| NG_008365.1:g.56497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.548-18C>T MANE Select | ENSP00000477587.1:n.548-18C>T | |
| ENST00000622030.1:c.548-18C>T | ENSP00000477587.1:n.548-18C>T | |
| NM_000348.3:c.548-18C>T | NP_000339.2:n.548-18C>T | |
| XM_011533069.1:c.326-18C>T | XP_011531371.1:n.326-18C>T | |
| XM_011533070.1:c.293-18C>T | XP_011531372.1:n.293-18C>T | |
| XM_011533071.1:c.293-18C>T | XP_011531373.1:n.293-18C>T | |
| XM_011533072.1:c.293-18C>T | XP_011531374.1:n.293-18C>T | |
| XM_011533069.2:c.326-18C>T | XP_011531371.1:n.326-18C>T | |
| XM_011533072.2:c.293-18C>T | XP_011531374.1:n.293-18C>T | |
| NM_000348.4:c.548-18C>T MANE Select | NP_000339.2:n.548-18C>T |