Linked Data
ClinVar Variation Id:
2169474
ClinVar RCV Id:
RCV003084844
dbSNP Id:
rs139416346
ExAC:
3:48605012 G / A
gnomAD v2:
3-48605012-G-A
gnomAD v3:
3-48567579-G-A
gnomAD v4:
3-48567579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567579G>A , CM000665.2:g.48567579G>A | GRCh38 |
| NC_000003.11:g.48605012G>A , CM000665.1:g.48605012G>A | GRCh37 |
| NC_000003.10:g.48580016G>A | NCBI36 |
| NG_007065.1:g.32674C>T , LRG_286:g.32674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.8041C>T MANE Select | ENSP00000506558.1:p.Pro2681Ser | |
| ENST00000328333.12:c.8041C>T | ENSP00000332371.8:p.Pro2681Ser | |
| ENST00000487017.5:n.4680C>T | ||
| NM_000094.3:c.8041C>T , LRG_286t1:c.8041C>T | NP_000085.1:p.Pro2681Ser | |
| XM_011533336.1:c.8068C>T | XP_011531638.1:p.Pro2690Ser | |
| XM_011533337.1:c.8041C>T | XP_011531639.1:p.Pro2681Ser | |
| XM_011533338.1:c.8008C>T | XP_011531640.1:p.Pro2670Ser | |
| XR_940369.1:n.8104C>T | ||
| XR_940370.1:n.8104C>T | ||
| XR_940371.1:n.8104C>T | ||
| XM_017005688.1:c.7981C>T | XP_016861177.1:p.Pro2661Ser | |
| XR_001740003.1:n.8077C>T | ||
| XR_001740004.1:n.8077C>T | ||
| XR_001740005.1:n.8077C>T | ||
| NM_000094.4:c.8041C>T MANE Select | NP_000085.1:p.Pro2681Ser |