Linked Data
dbSNP Id:
rs2622590
gnomAD v2:
8-56358274-G-A
gnomAD v3:
8-55445714-G-A
gnomAD v4:
8-55445714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.55445714G>A , CM000670.2:g.55445714G>A | GRCh38 |
| NC_000008.10:g.56358274G>A , CM000670.1:g.56358274G>A | GRCh37 |
| NC_000008.9:g.56520828G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327381.7:c.1007-77567G>A MANE Select | ENSP00000328326.5:n.1007-77567G>A | |
| ENST00000327381.6:c.1007-77567G>A | ENSP00000328326.5:n.1007-77567G>A | |
| ENST00000622811.1:c.1007-77567G>A | ENSP00000480076.1:n.1007-77567G>A | |
| NM_052898.1:c.1007-77567G>A | NP_443130.1:n.1007-77567G>A | |
| NM_052898.2:c.1007-77567G>A MANE Select | NP_443130.1:n.1007-77567G>A |