Linked Data
ClinVar Variation Id:
1652351
dbSNP Id:
rs764898597
ExAC:
9:94488886 C / T
gnomAD v2:
9-94488886-C-T
gnomAD v4:
9-91726604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726604C>T , CM000671.2:g.91726604C>T | GRCh38 |
| NC_000009.11:g.94488886C>T , CM000671.1:g.94488886C>T | GRCh37 |
| NC_000009.10:g.93528707C>T | NCBI36 |
| NG_008089.1:g.228559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1323G>A MANE Select | ENSP00000364860.3:p.Arg441= | |
| ENST00000375708.3:c.1323G>A | ENSP00000364860.3:p.Arg441= | |
| ENST00000375715.5:c.903G>A | ENSP00000364867.1:p.Arg301= | |
| ENST00000550066.5:n.1791G>A | ||
| NM_004560.3:c.1323G>A | NP_004551.2:p.Arg441= | |
| XM_005252008.3:c.903G>A | XP_005252065.1:p.Arg301= | |
| XM_005252009.3:c.120G>A | XP_005252066.1:p.Arg40= | |
| XM_006717121.2:c.903G>A | XP_006717184.1:p.Arg301= | |
| XM_011518721.1:c.903G>A | XP_011517023.1:p.Arg301= | |
| NM_001318204.1:c.1289G>A | NP_001305133.1:p.Gly430Asp | |
| XM_005252008.4:c.903G>A | XP_005252065.1:p.Arg301= | |
| XM_006717121.3:c.903G>A | XP_006717184.1:p.Arg301= | |
| XM_017014762.1:c.1314G>A | XP_016870251.1:p.Arg438= | |
| XM_017014763.1:c.903G>A | XP_016870252.1:p.Arg301= | |
| XR_001746315.1:n.1532G>A | ||
| NM_004560.4:c.1323G>A MANE Select | NP_004551.2:p.Arg441= | |
| NM_001318204.2:c.1289G>A | NP_001305133.1:p.Gly430Asp |