Linked Data
ClinVar Variation Id:
364380
dbSNP Id:
rs752051518
ExAC:
9:107550221 C / T
gnomAD v2:
9-107550221-C-T
gnomAD v3:
9-104787940-C-T
gnomAD v4:
9-104787940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104787940C>T , CM000671.2:g.104787940C>T | GRCh38 |
| NC_000009.11:g.107550221C>T , CM000671.1:g.107550221C>T | GRCh37 |
| NC_000009.10:g.106590042C>T | NCBI36 |
| NG_007981.1:g.145216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.6184G>A MANE Select | ENSP00000363868.3:p.Gly2062Arg | |
| ENST00000678995.1:c.6190G>A | ENSP00000504612.1:p.Gly2064Arg | |
| ENST00000374736.7:c.6184G>A | ENSP00000363868.3:p.Gly2062Arg | |
| NM_005502.3:c.6184G>A | NP_005493.2:p.Gly2062Arg | |
| XM_005251773.1:c.6190G>A | XP_005251830.1:p.Gly2064Arg | |
| XM_005251776.1:c.6010G>A | XP_005251833.1:p.Gly2004Arg | |
| XM_011518339.1:c.6265G>A | XP_011516641.1:p.Gly2089Arg | |
| XM_011518340.1:c.6265G>A | XP_011516642.1:p.Gly2089Arg | |
| XM_011518341.1:c.6259G>A | XP_011516643.1:p.Gly2087Arg | |
| XM_011518342.1:c.5827G>A | XP_011516644.1:p.Gly1943Arg | |
| XM_011518343.1:c.6265G>A | XP_011516645.1:p.Gly2089Arg | |
| XM_005251773.3:c.6190G>A | XP_005251830.1:p.Gly2064Arg | |
| XM_005251776.3:c.6010G>A | XP_005251833.1:p.Gly2004Arg | |
| XM_011518339.3:c.6265G>A | XP_011516641.1:p.Gly2089Arg | |
| XM_011518340.3:c.6265G>A | XP_011516642.1:p.Gly2089Arg | |
| XM_011518341.3:c.6259G>A | XP_011516643.1:p.Gly2087Arg | |
| XM_011518342.3:c.5827G>A | XP_011516644.1:p.Gly1943Arg | |
| XM_017014378.2:c.6265G>A | XP_016869867.1:p.Gly2089Arg | |
| XM_017014379.2:c.6265G>A | XP_016869868.1:p.Gly2089Arg | |
| XM_017014380.2:c.6265G>A | XP_016869869.1:p.Gly2089Arg | |
| XM_017014381.2:c.6265G>A | XP_016869870.1:p.Gly2089Arg | |
| XM_017014382.2:c.6127G>A | XP_016869871.1:p.Gly2043Arg | |
| XR_001746223.1:n.6578G>A | ||
| NM_005502.4:c.6184G>A MANE Select | NP_005493.2:p.Gly2062Arg |