Linked Data
ClinVar Variation Id:
2552681
ClinVar RCV Id:
RCV004324408
dbSNP Id:
rs759416037
ExAC:
8:135614487 C / A
gnomAD v2:
8-135614487-C-A
gnomAD v4:
8-134602244-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134602244C>A , CM000670.2:g.134602244C>A | GRCh38 |
| NC_000008.10:g.135614487C>A , CM000670.1:g.135614487C>A | GRCh37 |
| NC_000008.9:g.135683669C>A | NCBI36 |
| NG_016356.1:g.115806G>T | |
| NG_016356.2:g.115806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.1475G>T MANE Select | ENSP00000367069.3:p.Ser492Ile | |
| ENST00000377838.7:c.1475G>T | ENSP00000367069.3:p.Ser492Ile | |
| ENST00000429442.6:c.1439G>T | ENSP00000394501.2:p.Ser480Ile | |
| ENST00000520214.5:c.1439G>T | ENSP00000428483.1:p.Ser480Ile | |
| ENST00000520356.5:c.1439G>T | ENSP00000427879.1:p.Ser480Ile | |
| ENST00000520727.5:c.1439G>T | ENSP00000427831.1:p.Ser480Ile | |
| ENST00000522974.5:n.1580G>T | ||
| ENST00000523243.5:c.1475G>T | ENSP00000429930.1:p.Ser492Ile | |
| ENST00000523399.5:c.1289G>T | ENSP00000429091.1:p.Ser430Ile | |
| ENST00000523924.5:c.*1457G>T | ENSP00000429050.1:n.*1457G>T | |
| NM_001029939.3:c.1439G>T | NP_001025110.2:p.Ser480Ile | |
| NM_001167583.2:c.1439G>T | NP_001161055.1:p.Ser480Ile | |
| NM_001174157.1:c.1289G>T | NP_001167628.1:p.Ser430Ile | |
| NM_001174158.1:c.1439G>T | NP_001167629.1:p.Ser480Ile | |
| NM_001289394.1:c.1439G>T | NP_001276323.1:p.Ser480Ile | |
| NM_020863.3:c.1475G>T | NP_065914.2:p.Ser492Ile | |
| NR_110323.1:n.1661G>T | ||
| XM_011517203.1:c.1439G>T | XP_011515505.1:p.Ser480Ile | |
| XM_011517204.1:c.1289G>T | XP_011515506.1:p.Ser430Ile | |
| XM_011517205.1:c.1439G>T | XP_011515507.1:p.Ser480Ile | |
| XM_011517206.1:c.1439G>T | XP_011515508.1:p.Ser480Ile | |
| XR_928343.1:n.1456G>T | ||
| XM_011517204.2:c.1289G>T | XP_011515506.1:p.Ser430Ile | |
| XM_011517206.2:c.1439G>T | XP_011515508.1:p.Ser480Ile | |
| XM_017013716.1:c.1439G>T | XP_016869205.1:p.Ser480Ile | |
| XR_001745568.1:n.1456G>T | ||
| XR_001745569.1:n.1456G>T | ||
| XR_001745570.1:n.1456G>T | ||
| XR_928343.2:n.1456G>T | ||
| NM_020863.4:c.1475G>T MANE Select | NP_065914.2:p.Ser492Ile | |
| NM_001029939.4:c.1439G>T | NP_001025110.2:p.Ser480Ile | |
| NM_001167583.3:c.1439G>T | NP_001161055.1:p.Ser480Ile | |
| NM_001174157.2:c.1289G>T | NP_001167628.1:p.Ser430Ile | |
| NM_001174158.2:c.1439G>T | NP_001167629.1:p.Ser480Ile | |
| NM_001289394.2:c.1439G>T | NP_001276323.1:p.Ser480Ile | |
| NR_110323.2:n.1643G>T |