Linked Data
dbSNP Id:
rs762911749
ExAC:
3:183777932 C / G
gnomAD v2:
3-183777932-C-G
gnomAD v3:
3-184060144-C-G
gnomAD v4:
3-184060144-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060144C>G , CM000665.2:g.184060144C>G | GRCh38 |
| NC_000003.11:g.183777932C>G , CM000665.1:g.183777932C>G | GRCh37 |
| NC_000003.10:g.185260626C>G | NCBI36 |
| NG_012749.1:g.12098C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318351.2:c.1142-6C>G MANE Select | ENSP00000322617.1:n.1142-6C>G | |
| ENST00000318351.1:c.1142-6C>G | ENSP00000322617.1:n.1142-6C>G | |
| NM_130770.2:c.1142-6C>G | NP_570126.2:n.1142-6C>G | |
| NM_130770.3:c.1142-6C>G MANE Select | NP_570126.2:n.1142-6C>G |