Linked Data
dbSNP Id:
rs33958637
ExAC:
11:5246947 T / G
gnomAD v2:
11-5246947-T-G
gnomAD v3:
11-5225717-T-G
gnomAD v4:
11-5225717-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225717T>G , CM000673.2:g.5225717T>G | GRCh38 |
| NC_000011.9:g.5246947T>G , CM000673.1:g.5246947T>G | GRCh37 |
| NC_000011.8:g.5203523T>G | NCBI36 |
| NG_000007.3:g.71899A>C | |
| NG_059281.1:g.6355A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.325A>C | ENSP00000494175.1:p.Asn109His | |
| ENST00000335295.4:c.325A>C MANE Select | ENSP00000333994.3:p.Asn109His | |
| ENST00000475226.1:n.257A>C | ||
| ENST00000633227.1:c.*141A>C | ENSP00000488004.1:n.*141A>C | |
| NM_000518.4:c.325A>C | NP_000509.1:p.Asn109His | |
| NM_000518.5:c.325A>C MANE Select | NP_000509.1:p.Asn109His |