Linked Data
dbSNP Id:
rs751595372
ExAC:
1:94506773 C / T
gnomAD v2:
1-94506773-C-T
gnomAD v4:
1-94041217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041217C>T , CM000663.2:g.94041217C>T | GRCh38 |
| NC_000001.10:g.94506773C>T , CM000663.1:g.94506773C>T | GRCh37 |
| NC_000001.9:g.94279361C>T | NCBI36 |
| NG_009073.1:g.84933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3514G>A MANE Select | ENSP00000359245.3:p.Gly1172Ser | |
| ENST00000370225.3:c.3514G>A | ENSP00000359245.3:p.Gly1172Ser | |
| ENST00000536513.5:c.-64-1128G>A | ENSP00000439707.2:n.-64-1128G>A | |
| NM_000350.2:c.3514G>A | NP_000341.2:p.Gly1172Ser | |
| NM_000350.3:c.3514G>A MANE Select | NP_000341.2:p.Gly1172Ser |