Linked Data
ClinVar Variation Id:
1915243
ClinVar RCV Id:
RCV002601336
dbSNP Id:
rs377050872
ExAC:
8:87588262 C / T
gnomAD v2:
8-87588262-C-T
gnomAD v4:
8-86576034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576034C>T , CM000670.2:g.86576034C>T | GRCh38 |
| NC_000008.10:g.87588262C>T , CM000670.1:g.87588262C>T | GRCh37 |
| NC_000008.9:g.87657378C>T | NCBI36 |
| NG_016980.1:g.172642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2200G>A MANE Select | ENSP00000316605.5:p.Gly734Arg | |
| ENST00000681546.1:n.2020G>A | ||
| ENST00000681746.1:c.*611G>A | ENSP00000505959.1:n.*611G>A | |
| ENST00000320005.5:c.2200G>A | ENSP00000316605.5:p.Gly734Arg | |
| ENST00000517327.5:c.276+2655G>A | ENSP00000428329.1:n.276+2655G>A | |
| NM_019098.4:c.2200G>A | NP_061971.3:p.Gly734Arg | |
| XM_011517138.1:c.1786G>A | XP_011515440.1:p.Gly596Arg | |
| XM_011517138.2:c.1786G>A | XP_011515440.1:p.Gly596Arg | |
| NM_019098.5:c.2200G>A MANE Select | NP_061971.3:p.Gly734Arg |