Linked Data
ClinVar Variation Id:
364405
dbSNP Id:
rs200409979
ExAC:
9:107573095 C / T
gnomAD v2:
9-107573095-C-T
gnomAD v4:
9-104810814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104810814C>T , CM000671.2:g.104810814C>T | GRCh38 |
| NC_000009.11:g.107573095C>T , CM000671.1:g.107573095C>T | GRCh37 |
| NC_000009.10:g.106612916C>T | NCBI36 |
| NG_007981.1:g.122342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.4161G>A MANE Select | ENSP00000363868.3:p.Gln1387= | |
| ENST00000678995.1:c.4167G>A | ENSP00000504612.1:p.Gln1389= | |
| ENST00000374736.7:c.4161G>A | ENSP00000363868.3:p.Gln1387= | |
| NM_005502.3:c.4161G>A | NP_005493.2:p.Gln1387= | |
| XM_005251773.1:c.4167G>A | XP_005251830.1:p.Gln1389= | |
| XM_005251776.1:c.3987G>A | XP_005251833.1:p.Gln1329= | |
| XM_011518339.1:c.4242G>A | XP_011516641.1:p.Gln1414= | |
| XM_011518340.1:c.4242G>A | XP_011516642.1:p.Gln1414= | |
| XM_011518341.1:c.4236G>A | XP_011516643.1:p.Gln1412= | |
| XM_011518342.1:c.3804G>A | XP_011516644.1:p.Gln1268= | |
| XM_011518343.1:c.4242G>A | XP_011516645.1:p.Gln1414= | |
| XM_011518344.1:c.4242G>A | XP_011516646.1:p.Gln1414= | |
| XM_005251773.3:c.4167G>A | XP_005251830.1:p.Gln1389= | |
| XM_005251776.3:c.3987G>A | XP_005251833.1:p.Gln1329= | |
| XM_011518339.3:c.4242G>A | XP_011516641.1:p.Gln1414= | |
| XM_011518340.3:c.4242G>A | XP_011516642.1:p.Gln1414= | |
| XM_011518341.3:c.4236G>A | XP_011516643.1:p.Gln1412= | |
| XM_011518342.3:c.3804G>A | XP_011516644.1:p.Gln1268= | |
| XM_011518344.2:c.4242G>A | XP_011516646.1:p.Gln1414= | |
| XM_017014378.2:c.4242G>A | XP_016869867.1:p.Gln1414= | |
| XM_017014379.2:c.4242G>A | XP_016869868.1:p.Gln1414= | |
| XM_017014380.2:c.4242G>A | XP_016869869.1:p.Gln1414= | |
| XM_017014381.2:c.4242G>A | XP_016869870.1:p.Gln1414= | |
| XM_017014382.2:c.4104G>A | XP_016869871.1:p.Gln1368= | |
| XR_001746223.1:n.4555G>A | ||
| NM_005502.4:c.4161G>A MANE Select | NP_005493.2:p.Gln1387= |