Linked Data
dbSNP Id:
rs747466348
ExAC:
7:5642880 C / G
gnomAD v2:
7-5642880-C-G
gnomAD v4:
7-5603249-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603249C>G , CM000669.2:g.5603249C>G | GRCh38 |
| NC_000007.13:g.5642880C>G , CM000669.1:g.5642880C>G | GRCh37 |
| NC_000007.12:g.5609406C>G | NCBI36 |
| NG_030004.1:g.15445C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.833-8C>G MANE Select | ENSP00000371798.3:n.833-8C>G | |
| ENST00000382361.7:c.833-8C>G | ENSP00000371798.3:n.833-8C>G | |
| ENST00000405801.2:c.-2-8C>G | ENSP00000383982.2:n.-2-8C>G | |
| ENST00000444748.5:c.-2-8C>G | ENSP00000404506.1:n.-2-8C>G | |
| ENST00000447103.5:c.-2-8C>G | ENSP00000409967.1:n.-2-8C>G | |
| ENST00000473330.1:n.378C>G | ||
| NM_003088.3:c.833-8C>G | NP_003079.1:n.833-8C>G | |
| NM_003088.4:c.833-8C>G MANE Select | NP_003079.1:n.833-8C>G |