Linked Data
dbSNP Id:
rs10885997
ExAC:
10:118397971 A / G
gnomAD v2:
10-118397971-A-G
gnomAD v3:
10-116638460-A-G
gnomAD v4:
10-116638460-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.116638460A>G , CM000672.2:g.116638460A>G | GRCh38 |
| NC_000010.10:g.118397971A>G , CM000672.1:g.118397971A>G | GRCh37 |
| NC_000010.9:g.118387961A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579578.6:c.1158A>G | ENSP00000463502.4:p.Ser386= | |
| ENST00000591655.3:c.1158A>G | ENSP00000468117.2:p.Ser386= | |
| ENST00000611850.4:c.1155A>G | ENSP00000480815.1:p.Ser385= | |
| NM_005396.4:c.1161A>G | NP_005387.2:p.Ser387= | |
| NR_103727.1:n.1184A>G | ||
| XM_017016339.2:c.*87A>G | XP_016871828.1:n.*87A>G | |
| NR_103727.2:n.1184A>G |