Linked Data
dbSNP Id:
rs1370005
ExAC:
8:104445009 T / G
gnomAD v2:
8-104445009-T-G
gnomAD v3:
8-103432781-T-G
gnomAD v4:
8-103432781-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103432781T>G , CM000670.2:g.103432781T>G | GRCh38 |
| NC_000008.10:g.104445009T>G , CM000670.1:g.104445009T>G | GRCh37 |
| NC_000008.9:g.104514185T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612750.5:c.785+40T>G MANE Select | ENSP00000484962.1:n.785+40T>G | |
| ENST00000649416.1:c.2-24997A>C | ENSP00000496817.1:n.2-24997A>C | |
| ENST00000297579.9:c.1241+40T>G | ENSP00000297579.5:n.1241+40T>G | |
| ENST00000518554.2:n.4179+40T>G | ||
| ENST00000521999.5:c.374+40T>G | ENSP00000484168.1:n.374+40T>G | |
| ENST00000612750.4:c.785+40T>G | ENSP00000484962.1:n.785+40T>G | |
| ENST00000616836.4:c.1241+40T>G | ENSP00000477526.1:n.1241+40T>G | |
| NM_015420.6:c.1241+40T>G | NP_056235.4:n.1241+40T>G | |
| NM_015420.7:c.785+40T>G MANE Select | NP_056235.5:n.785+40T>G |