Linked Data
ClinVar Variation Id:
2167037
dbSNP Id:
rs746586128
ExAC:
1:216040411 C / T
gnomAD v2:
1-216040411-C-T
gnomAD v4:
1-215867069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867069C>T , CM000663.2:g.215867069C>T | GRCh38 |
| NC_000001.10:g.216040411C>T , CM000663.1:g.216040411C>T | GRCh37 |
| NC_000001.9:g.214107034C>T | NCBI36 |
| NG_009497.1:g.561328G>A | |
| NG_009497.2:g.561380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8783G>A MANE Select | ENSP00000305941.3:p.Gly2928Glu | |
| ENST00000674083.1:c.8783G>A | ENSP00000501296.1:p.Gly2928Glu | |
| ENST00000307340.7:c.8783G>A | ENSP00000305941.3:p.Gly2928Glu | |
| NM_206933.2:c.8783G>A | NP_996816.2:p.Gly2928Glu | |
| NM_206933.3:c.8783G>A | NP_996816.2:p.Gly2928Glu | |
| NM_206933.4:c.8783G>A MANE Select | NP_996816.3:p.Gly2928Glu |