Linked Data
ClinVar Variation Id:
2994557
ClinVar RCV Id:
RCV003858180
dbSNP Id:
rs549801430
ExAC:
19:17983499 G / A
gnomAD v2:
19-17983499-G-A
gnomAD v3:
19-17872690-G-A
gnomAD v4:
19-17872690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17872690G>A , CM000681.2:g.17872690G>A | GRCh38 |
| NC_000019.9:g.17983499G>A , CM000681.1:g.17983499G>A | GRCh37 |
| NC_000019.8:g.17844499G>A | NCBI36 |
| NG_012930.1:g.5718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.357+14G>A MANE Select | ENSP00000222248.2:n.357+14G>A | |
| ENST00000222248.3:c.357+14G>A | ENSP00000222248.2:n.357+14G>A | |
| NM_000453.2:c.357+14G>A | NP_000444.1:n.357+14G>A | |
| XM_011528192.1:c.357+14G>A | XP_011526494.1:n.357+14G>A | |
| XM_011528193.1:c.90+14G>A | XP_011526495.1:n.90+14G>A | |
| XM_011528192.2:c.357+14G>A | XP_011526494.1:n.357+14G>A | |
| XM_011528193.3:c.90+14G>A | XP_011526495.1:n.90+14G>A | |
| XM_017027158.1:c.90+14G>A | XP_016882647.1:n.90+14G>A | |
| NM_000453.3:c.357+14G>A MANE Select | NP_000444.1:n.357+14G>A |