Linked Data
dbSNP Id:
rs754481448
ExAC:
11:5247906 A / G
gnomAD v2:
11-5247906-A-G
gnomAD v3:
11-5226676-A-G
gnomAD v4:
11-5226676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226676A>G , CM000673.2:g.5226676A>G | GRCh38 |
| NC_000011.9:g.5247906A>G , CM000673.1:g.5247906A>G | GRCh37 |
| NC_000011.8:g.5204482A>G | NCBI36 |
| NG_000007.3:g.70940T>C | |
| NG_059281.1:g.5396T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.216T>C | ENSP00000494175.1:p.Phe72= | |
| ENST00000335295.4:c.216T>C MANE Select | ENSP00000333994.3:p.Phe72= | |
| ENST00000380315.2:c.216T>C | ENSP00000369671.2:p.Phe72= | |
| ENST00000475226.1:n.148T>C | ||
| ENST00000485743.1:n.267T>C | ||
| ENST00000633227.1:c.*32T>C | ENSP00000488004.1:n.*32T>C | |
| NM_000518.4:c.216T>C | NP_000509.1:p.Phe72= | |
| NM_000518.5:c.216T>C MANE Select | NP_000509.1:p.Phe72= |