Linked Data
ClinVar Variation Id:
1222858
ClinVar RCV Id:
RCV001810116
dbSNP Id:
rs4808709
ExAC:
19:18001839 A / G
gnomAD v2:
19-18001839-A-G
gnomAD v3:
19-17891030-A-G
gnomAD v4:
19-17891030-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17891030A>G , CM000681.2:g.17891030A>G | GRCh38 |
| NC_000019.9:g.18001839A>G , CM000681.1:g.18001839A>G | GRCh37 |
| NC_000019.8:g.17862839A>G | NCBI36 |
| NG_012930.1:g.24058A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222248.4:c.1767+29A>G MANE Select | ENSP00000222248.2:n.1767+29A>G | |
| ENST00000222248.3:c.1767+29A>G | ENSP00000222248.2:n.1767+29A>G | |
| NM_000453.2:c.1767+29A>G | NP_000444.1:n.1767+29A>G | |
| XM_011528192.1:c.1800+29A>G | XP_011526494.1:n.1800+29A>G | |
| XM_011528193.1:c.1533+29A>G | XP_011526495.1:n.1533+29A>G | |
| XM_011528194.1:c.1434+29A>G | XP_011526496.1:n.1434+29A>G | |
| XM_011528192.2:c.1800+29A>G | XP_011526494.1:n.1800+29A>G | |
| XM_011528193.3:c.1533+29A>G | XP_011526495.1:n.1533+29A>G | |
| XM_011528194.3:c.1434+29A>G | XP_011526496.1:n.1434+29A>G | |
| XM_017027158.1:c.1500+29A>G | XP_016882647.1:n.1500+29A>G | |
| NM_000453.3:c.1767+29A>G MANE Select | NP_000444.1:n.1767+29A>G |