Linked Data
dbSNP Id:
rs751425951
ExAC:
6:31686941 G / A
gnomAD v2:
6-31686941-G-A
gnomAD v3:
6-31719164-G-A
gnomAD v4:
6-31719164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31719164G>A , CM000668.2:g.31719164G>A | GRCh38 |
| NC_000006.11:g.31686941G>A , CM000668.1:g.31686941G>A | GRCh37 |
| NC_000006.10:g.31794920G>A | NCBI36 |
| NG_029044.1:g.821G>A | |
| NG_029044.2:g.821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375819.3:c.310C>T (LY6G6C) MANE Select | ENSP00000364978.2:p.Pro104Ser | |
| ENST00000375819.2:c.310C>T (LY6G6C) | ENSP00000364978.2:p.Pro104Ser | |
| ENST00000460663.5:n.90+481G>A (MPIG6B) | ||
| ENST00000495859.1:c.142C>T (LY6G6C) | ENSP00000433207.1:p.Pro48Ser | |
| NM_025261.2:c.310C>T (LY6G6C) | NP_079537.1:p.Pro104Ser | |
| NM_025261.3:c.310C>T (LY6G6C) MANE Select | NP_079537.1:p.Pro104Ser |