Linked Data
ClinVar Variation Id:
205596
dbSNP Id:
rs201029006
ExAC:
19:1397362 C / G
gnomAD v2:
19-1397362-C-G
gnomAD v3:
19-1397363-C-G
gnomAD v4:
19-1397363-C-G
ERepo:
CA314836/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397363C>G , CM000681.2:g.1397363C>G | GRCh38 |
| NC_000019.9:g.1397362C>G , CM000681.1:g.1397362C>G | GRCh37 |
| NC_000019.8:g.1348362C>G | NCBI36 |
| NG_008283.1:g.18480C>G | |
| NG_009785.1:g.9191G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.707G>C MANE Select | ENSP00000252288.1:p.Gly236Ala | |
| ENST00000640762.1:c.638G>C | ENSP00000492031.1:p.Gly213Ala | |
| ENST00000252288.6:c.707G>C | ENSP00000252288.1:p.Gly236Ala | |
| NM_000156.5:c.707G>C | NP_000147.1:p.Gly236Ala | |
| NM_000156.6:c.707G>C MANE Select | NP_000147.1:p.Gly236Ala |