Linked Data
ClinVar Variation Id:
7318
dbSNP Id:
rs267607016
gnomAD v2:
9-94488885-G-A
gnomAD v3:
9-91726603-G-A
gnomAD v4:
9-91726603-G-A
PubMed:
PMID:19640924
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726603G>A , CM000671.2:g.91726603G>A | GRCh38 |
| NC_000009.11:g.94488885G>A , CM000671.1:g.94488885G>A | GRCh37 |
| NC_000009.10:g.93528706G>A | NCBI36 |
| NG_008089.1:g.228560C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375708.4:c.1324C>T MANE Select | ENSP00000364860.3:p.Arg442Ter | |
| ENST00000375708.3:c.1324C>T | ENSP00000364860.3:p.Arg442Ter | |
| ENST00000375715.5:c.904C>T | ENSP00000364867.1:p.Arg302Ter | |
| ENST00000550066.5:n.1792C>T | ||
| NM_004560.3:c.1324C>T | NP_004551.2:p.Arg442Ter | |
| XM_005252008.3:c.904C>T | XP_005252065.1:p.Arg302Ter | |
| XM_005252009.3:c.121C>T | XP_005252066.1:p.Arg41Ter | |
| XM_006717121.2:c.904C>T | XP_006717184.1:p.Arg302Ter | |
| XM_011518721.1:c.904C>T | XP_011517023.1:p.Arg302Ter | |
| NM_001318204.1:c.1290C>T | NP_001305133.1:p.Gly430= | |
| XM_005252008.4:c.904C>T | XP_005252065.1:p.Arg302Ter | |
| XM_006717121.3:c.904C>T | XP_006717184.1:p.Arg302Ter | |
| XM_017014762.1:c.1315C>T | XP_016870251.1:p.Arg439Ter | |
| XM_017014763.1:c.904C>T | XP_016870252.1:p.Arg302Ter | |
| XR_001746315.1:n.1533C>T | ||
| NM_004560.4:c.1324C>T MANE Select | NP_004551.2:p.Arg442Ter | |
| NM_001318204.2:c.1290C>T | NP_001305133.1:p.Gly430= |