Linked Data
ClinVar Variation Id:
3059400
ClinVar RCV Id:
RCV003974371
dbSNP Id:
rs1366842
ExAC:
2:185802243 C / A
gnomAD v2:
2-185802243-C-A
gnomAD v3:
2-184937516-C-A
gnomAD v4:
2-184937516-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184937516C>A , CM000664.2:g.184937516C>A | GRCh38 |
| NC_000002.11:g.185802243C>A , CM000664.1:g.185802243C>A | GRCh37 |
| NC_000002.10:g.185510488C>A | NCBI36 |
| NG_046950.1:g.344151C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302277.7:c.2120C>A MANE Select | ENSP00000303252.6:p.Thr707Lys | |
| ENST00000302277.6:c.2120C>A | ENSP00000303252.6:p.Thr707Lys | |
| ENST00000613975.1:c.1865C>A | ENSP00000483032.1:p.Thr622Lys | |
| NM_194250.1:c.2120C>A | NP_919226.1:p.Thr707Lys | |
| NM_194250.2:c.2120C>A MANE Select | NP_919226.1:p.Thr707Lys |