Linked Data
dbSNP Id:
rs781494461
ExAC:
1:94463490 A / G
gnomAD v2:
1-94463490-A-G
gnomAD v4:
1-93997934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997934A>G , CM000663.2:g.93997934A>G | GRCh38 |
| NC_000001.10:g.94463490A>G , CM000663.1:g.94463490A>G | GRCh37 |
| NC_000001.9:g.94236078A>G | NCBI36 |
| NG_009073.1:g.128216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6656T>C MANE Select | ENSP00000359245.3:p.Phe2219Ser | |
| ENST00000370225.3:c.6656T>C | ENSP00000359245.3:p.Phe2219Ser | |
| ENST00000536513.5:c.3032T>C | ENSP00000439707.2:p.Phe1011Ser | |
| NM_000350.2:c.6656T>C | NP_000341.2:p.Phe2219Ser | |
| NM_000350.3:c.6656T>C MANE Select | NP_000341.2:p.Phe2219Ser |