Linked Data
dbSNP Id:
rs1188423946
gnomAD v2:
22-20127581-G-A
gnomAD v3:
22-20140058-G-A
gnomAD v4:
22-20140058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20140058G>A , CM000684.2:g.20140058G>A | GRCh38 |
| NC_000022.10:g.20127581G>A , CM000684.1:g.20127581G>A | GRCh37 |
| NC_000022.9:g.18507581G>A | NCBI36 |
| NG_021420.1:g.13218G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334554.12:c.558-57G>A MANE Select | ENSP00000334490.7:n.558-57G>A | |
| ENST00000320602.11:c.384+423G>A | ENSP00000317804.7:n.384+423G>A | |
| ENST00000334554.11:c.558-57G>A | ENSP00000334490.7:n.558-57G>A | |
| ENST00000405930.3:c.558-57G>A | ENSP00000384716.3:n.558-57G>A | |
| ENST00000468112.5:n.58-559G>A | ||
| ENST00000469212.5:n.122G>A | ||
| NM_001185024.1:c.558-57G>A | NP_001171953.1:n.558-57G>A | |
| NM_013373.3:c.558-57G>A | NP_037505.1:n.558-57G>A | |
| XM_006724239.2:c.558-57G>A | XP_006724302.1:n.558-57G>A | |
| NM_001185024.2:c.558-57G>A | NP_001171953.1:n.558-57G>A | |
| NM_013373.4:c.558-57G>A MANE Select | NP_037505.1:n.558-57G>A |