Linked Data
dbSNP Id:
rs1318659949
gnomAD v2:
5-107281560-T-C
gnomAD v3:
5-107945859-T-C
gnomAD v4:
5-107945859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107945859T>C , CM000667.2:g.107945859T>C | GRCh38 |
| NC_000005.9:g.107281560T>C , CM000667.1:g.107281560T>C | GRCh37 |
| NC_000005.8:g.107309459T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496714.2:c.831-64680A>G | ||
| ENST00000542267.7:c.1823-64680A>G MANE Select | ENSP00000437464.2:n.1823-64680A>G | |
| ENST00000359660.9:c.629-64680A>G | ENSP00000352683.4:n.629-64680A>G | |
| ENST00000496714.1:c.629-64680A>G | ENSP00000418111.1:n.629-64680A>G | |
| ENST00000542267.5:c.1823-64680A>G | ENSP00000437464.1:n.1823-64680A>G | |
| ENST00000619412.4:c.1109-64680A>G | ENSP00000481439.1:n.1109-64680A>G | |
| NM_001163315.2:c.1823-64680A>G | NP_001156787.2:n.1823-64680A>G | |
| XM_005272048.3:c.1823-64680A>G | XP_005272105.1:n.1823-64680A>G | |
| XM_005272048.4:c.1823-64680A>G | XP_005272105.1:n.1823-64680A>G | |
| NM_001163315.3:c.1823-64680A>G MANE Select | NP_001156787.2:n.1823-64680A>G |