Linked Data
dbSNP Id:
rs745549366
ExAC:
1:94528219 C / G
gnomAD v2:
1-94528219-C-G
gnomAD v4:
1-94062663-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062663C>G , CM000663.2:g.94062663C>G | GRCh38 |
| NC_000001.10:g.94528219C>G , CM000663.1:g.94528219C>G | GRCh37 |
| NC_000001.9:g.94300807C>G | NCBI36 |
| NG_009073.1:g.63487G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1851G>C MANE Select | ENSP00000359245.3:p.Gln617His | |
| ENST00000649773.1:c.1851G>C | ENSP00000496882.1:p.Gln617His | |
| ENST00000370225.3:c.1851G>C | ENSP00000359245.3:p.Gln617His | |
| ENST00000536513.5:c.-65+511G>C | ENSP00000439707.2:n.-65+511G>C | |
| NM_000350.2:c.1851G>C | NP_000341.2:p.Gln617His | |
| NM_000350.3:c.1851G>C MANE Select | NP_000341.2:p.Gln617His |