Linked Data
dbSNP Id:
rs560283907
ExAC:
10:115803935 A / G
gnomAD v2:
10-115803935-A-G
gnomAD v3:
10-114044176-A-G
gnomAD v4:
10-114044176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044176A>G , CM000672.2:g.114044176A>G | GRCh38 |
| NC_000010.10:g.115803935A>G , CM000672.1:g.115803935A>G | GRCh37 |
| NC_000010.9:g.115793925A>G | NCBI36 |
| NG_012187.1:g.5130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.44A>G MANE Select | ENSP00000358301.2:p.Asn15Ser | |
| ENST00000369295.3:c.44A>G | ENSP00000358301.2:p.Asn15Ser | |
| NM_000684.2:c.44A>G | NP_000675.1:p.Asn15Ser | |
| NM_000684.3:c.44A>G MANE Select | NP_000675.1:p.Asn15Ser |