Linked Data
dbSNP Id:
rs775675450
ExAC:
22:20127239 C / A
gnomAD v2:
22-20127239-C-A
gnomAD v4:
22-20139716-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139716C>A , CM000684.2:g.20139716C>A | GRCh38 |
| NC_000022.10:g.20127239C>A , CM000684.1:g.20127239C>A | GRCh37 |
| NC_000022.9:g.18507239C>A | NCBI36 |
| NG_021420.1:g.12876C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.385-4C>A MANE Select | ENSP00000334490.7:n.385-4C>A | |
| ENST00000320602.11:c.384+81C>A | ENSP00000317804.7:n.384+81C>A | |
| ENST00000334554.11:c.385-4C>A | ENSP00000334490.7:n.385-4C>A | |
| ENST00000405930.3:c.385-4C>A | ENSP00000384716.3:n.385-4C>A | |
| ENST00000436518.5:c.352-4C>A | ENSP00000412807.1:n.352-4C>A | |
| ENST00000468112.5:n.58-901C>A | ||
| NM_001185024.1:c.385-4C>A | NP_001171953.1:n.385-4C>A | |
| NM_013373.3:c.385-4C>A | NP_037505.1:n.385-4C>A | |
| XM_006724239.2:c.385-4C>A | XP_006724302.1:n.385-4C>A | |
| NM_001185024.2:c.385-4C>A | NP_001171953.1:n.385-4C>A | |
| NM_013373.4:c.385-4C>A MANE Select | NP_037505.1:n.385-4C>A |