Linked Data
dbSNP Id:
rs114636410
ExAC:
1:115256457 T / C
gnomAD v2:
1-115256457-T-C
gnomAD v3:
1-114713836-T-C
gnomAD v4:
1-114713836-T-C
COSMIC:
COSM6022914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713836T>C , CM000663.2:g.114713836T>C | GRCh38 |
| NC_000001.10:g.115256457T>C , CM000663.1:g.115256457T>C | GRCh37 |
| NC_000001.9:g.115057980T>C | NCBI36 |
| NG_007572.1:g.8059A>G , LRG_92:g.8059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.254A>G MANE Select | ENSP00000358548.4:p.Asn85Ser | |
| ENST00000369535.4:c.254A>G | ENSP00000358548.4:p.Asn85Ser | |
| NM_002524.4:c.254A>G | NP_002515.1:p.Asn85Ser | |
| NM_002524.5:c.254A>G MANE Select | NP_002515.1:p.Asn85Ser |