Linked Data
ClinVar Variation Id:
265012
dbSNP Id:
rs145961131
gnomAD v2:
1-94528164-G-A
gnomAD v3:
1-94062608-G-A
gnomAD v4:
1-94062608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062608G>A , CM000663.2:g.94062608G>A | GRCh38 |
| NC_000001.10:g.94528164G>A , CM000663.1:g.94528164G>A | GRCh37 |
| NC_000001.9:g.94300752G>A | NCBI36 |
| NG_009073.1:g.63542C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.1906C>T MANE Select | ENSP00000359245.3:p.Gln636Ter | |
| ENST00000649773.1:c.1906C>T | ENSP00000496882.1:p.Gln636Ter | |
| ENST00000370225.3:c.1906C>T | ENSP00000359245.3:p.Gln636Ter | |
| ENST00000536513.5:c.-65+566C>T | ENSP00000439707.2:n.-65+566C>T | |
| NM_000350.2:c.1906C>T | NP_000341.2:p.Gln636Ter | |
| NM_000350.3:c.1906C>T MANE Select | NP_000341.2:p.Gln636Ter |