Linked Data
dbSNP Id:
rs779819094
ExAC:
6:6589143 A / G
gnomAD v2:
6-6589143-A-G
gnomAD v3:
6-6588910-A-G
gnomAD v4:
6-6588910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6588910A>G , CM000668.2:g.6588910A>G | GRCh38 |
| NC_000006.11:g.6589143A>G , CM000668.1:g.6589143A>G | GRCh37 |
| NC_000006.10:g.6534142A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230568.5:c.136+40A>G (LY86) MANE Select | ENSP00000230568.3:n.136+40A>G | |
| ENST00000230568.4:c.136+40A>G (LY86) | ENSP00000230568.3:n.136+40A>G | |
| ENST00000379953.6:c.136+40A>G (LY86) | ENSP00000369286.1:n.136+40A>G | |
| NM_004271.3:c.136+40A>G (LY86) | NP_004262.1:n.136+40A>G | |
| NR_026970.1:n.196-19421T>C (LY86-AS1) | ||
| XM_017011505.1:c.136+40A>G (LY86) | XP_016866994.1:n.136+40A>G | |
| NM_004271.4:c.136+40A>G (LY86) MANE Select | NP_004262.1:n.136+40A>G |