Linked Data
dbSNP Id:
rs1065356
ExAC:
6:31687008 G / A
gnomAD v2:
6-31687008-G-A
gnomAD v3:
6-31719231-G-A
gnomAD v4:
6-31719231-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31719231G>A , CM000668.2:g.31719231G>A | GRCh38 |
| NC_000006.11:g.31687008G>A , CM000668.1:g.31687008G>A | GRCh37 |
| NC_000006.10:g.31794987G>A | NCBI36 |
| NG_029044.1:g.888G>A | |
| NG_029044.2:g.888G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375819.3:c.243C>T (LY6G6C) MANE Select | ENSP00000364978.2:p.Arg81= | |
| ENST00000375819.2:c.243C>T (LY6G6C) | ENSP00000364978.2:p.Arg81= | |
| ENST00000460663.5:n.90+548G>A (MPIG6B) | ||
| ENST00000495859.1:c.75C>T (LY6G6C) | ENSP00000433207.1:p.Arg25= | |
| NM_025261.2:c.243C>T (LY6G6C) | NP_079537.1:p.Arg81= | |
| NM_025261.3:c.243C>T (LY6G6C) MANE Select | NP_079537.1:p.Arg81= |