Linked Data
dbSNP Id:
rs377675950
ExAC:
7:5642873 G / A
gnomAD v2:
7-5642873-G-A
gnomAD v3:
7-5603242-G-A
gnomAD v4:
7-5603242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603242G>A , CM000669.2:g.5603242G>A | GRCh38 |
| NC_000007.13:g.5642873G>A , CM000669.1:g.5642873G>A | GRCh37 |
| NC_000007.12:g.5609399G>A | NCBI36 |
| NG_030004.1:g.15438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.833-15G>A MANE Select | ENSP00000371798.3:n.833-15G>A | |
| ENST00000382361.7:c.833-15G>A | ENSP00000371798.3:n.833-15G>A | |
| ENST00000405801.2:c.-2-15G>A | ENSP00000383982.2:n.-2-15G>A | |
| ENST00000444748.5:c.-2-15G>A | ENSP00000404506.1:n.-2-15G>A | |
| ENST00000447103.5:c.-2-15G>A | ENSP00000409967.1:n.-2-15G>A | |
| ENST00000473330.1:n.371G>A | ||
| NM_003088.3:c.833-15G>A | NP_003079.1:n.833-15G>A | |
| NM_003088.4:c.833-15G>A MANE Select | NP_003079.1:n.833-15G>A |