Linked Data
ClinVar Variation Id:
228349
ClinVar RCV Id:
RCV000219624
dbSNP Id:
rs876657692
gnomAD v4:
19-3586681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586681G>A , CM000681.2:g.3586681G>A | GRCh38 |
| NC_000019.9:g.3586679G>A , CM000681.1:g.3586679G>A | GRCh37 |
| NC_000019.8:g.3537679G>A | NCBI36 |
| NG_031943.1:g.6111G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.411+1G>A MANE Select | ENSP00000493901.2:n.411+1G>A | |
| ENST00000644946.1:c.411+1G>A | ENSP00000495068.1:n.411+1G>A | |
| ENST00000322315.5:c.411+1G>A | ENSP00000319254.5:n.411+1G>A | |
| NM_133261.2:c.411+1G>A | NP_573568.1:n.411+1G>A | |
| XM_005259492.2:c.411+1G>A | XP_005259549.1:n.411+1G>A | |
| XM_005259492.3:c.411+1G>A | XP_005259549.1:n.411+1G>A | |
| NM_133261.3:c.411+1G>A MANE Select | NP_573568.1:n.411+1G>A |