Linked Data
dbSNP Id:
rs763978324
ExAC:
1:193172884 A / G
gnomAD v2:
1-193172884-A-G
gnomAD v3:
1-193203754-A-G
gnomAD v4:
1-193203754-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203754A>G , CM000663.2:g.193203754A>G | GRCh38 |
| NC_000001.10:g.193172884A>G , CM000663.1:g.193172884A>G | GRCh37 |
| NC_000001.9:g.191439507A>G | NCBI36 |
| NG_012691.1:g.86797A>G , LRG_507:g.86797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.973-41A>G MANE Select | ENSP00000356405.4:n.973-41A>G | |
| ENST00000635846.1:c.730-41A>G | ENSP00000490035.1:n.730-41A>G | |
| ENST00000643006.1:c.1041-41A>G | ENSP00000496633.1:n.1041-41A>G | |
| ENST00000648071.1:c.*949-41A>G | ENSP00000497513.1:n.*949-41A>G | |
| ENST00000649613.1:n.223-41A>G | ||
| ENST00000649895.1:n.1191-41A>G | ||
| ENST00000650197.1:c.973-41A>G | ENSP00000496929.1:n.973-41A>G | |
| ENST00000367435.3:c.973-41A>G | ENSP00000356405.3:n.973-41A>G | |
| NM_024529.4:c.973-41A>G , LRG_507t1:c.973-41A>G | NP_078805.3:n.973-41A>G | |
| NM_024529.5:c.973-41A>G MANE Select | NP_078805.3:n.973-41A>G |