Linked Data
ClinVar Variation Id:
2884733
ClinVar RCV Id:
RCV003608536
dbSNP Id:
rs754869601
ExAC:
2:31754357 G / A
gnomAD v2:
2-31754357-G-A
gnomAD v3:
2-31529287-G-A
gnomAD v4:
2-31529287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529287G>A , CM000664.2:g.31529287G>A | GRCh38 |
| NC_000002.11:g.31754357G>A , CM000664.1:g.31754357G>A | GRCh37 |
| NC_000002.10:g.31607861G>A | NCBI36 |
| NG_008365.1:g.56685C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.698+20C>T MANE Select | ENSP00000477587.1:n.698+20C>T | |
| ENST00000622030.1:c.698+20C>T | ENSP00000477587.1:n.698+20C>T | |
| NM_000348.3:c.698+20C>T | NP_000339.2:n.698+20C>T | |
| XM_011533069.1:c.476+20C>T | XP_011531371.1:n.476+20C>T | |
| XM_011533070.1:c.443+20C>T | XP_011531372.1:n.443+20C>T | |
| XM_011533071.1:c.443+20C>T | XP_011531373.1:n.443+20C>T | |
| XM_011533072.1:c.443+20C>T | XP_011531374.1:n.443+20C>T | |
| XM_011533069.2:c.476+20C>T | XP_011531371.1:n.476+20C>T | |
| XM_011533072.2:c.443+20C>T | XP_011531374.1:n.443+20C>T | |
| NM_000348.4:c.698+20C>T MANE Select | NP_000339.2:n.698+20C>T |