Linked Data
ClinVar Variation Id:
1561084
ClinVar RCV Id:
RCV002198123
dbSNP Id:
rs776382371
ExAC:
7:22985439 G / A
gnomAD v2:
7-22985439-G-A
gnomAD v3:
7-22945820-G-A
gnomAD v4:
7-22945820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22945820G>A , CM000669.2:g.22945820G>A | GRCh38 |
| NC_000007.13:g.22985439G>A , CM000669.1:g.22985439G>A | GRCh37 |
| NC_000007.12:g.22951964G>A | NCBI36 |
| NG_008392.1:g.73332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.1335C>T MANE Select | ENSP00000403396.2:p.Thr445= | |
| ENST00000440481.6:c.*371C>T | ENSP00000397168.2:n.*371C>T | |
| ENST00000465661.2:n.1182+14436C>T | ||
| ENST00000679789.1:c.*488C>T | ENSP00000506308.1:n.*488C>T | |
| ENST00000679826.1:c.903C>T | ENSP00000505460.1:p.Thr301= | |
| ENST00000680721.1:n.1358C>T | ||
| ENST00000681079.1:c.*488C>T | ENSP00000506370.1:n.*488C>T | |
| ENST00000681237.1:c.*991C>T | ENSP00000505270.1:n.*991C>T | |
| ENST00000681402.1:c.*1045C>T | ENSP00000506692.1:n.*1045C>T | |
| ENST00000681766.1:c.1281C>T | ENSP00000505161.1:p.Thr427= | |
| ENST00000409923.5:c.*371C>T | ENSP00000386246.1:n.*371C>T | |
| ENST00000432176.6:c.1335C>T | ENSP00000403396.2:p.Thr445= | |
| ENST00000440481.5:c.1786C>T | ||
| NM_032581.3:c.1335C>T | NP_115970.2:p.Thr445= | |
| XM_005249894.3:c.*371C>T | XP_005249951.1:n.*371C>T | |
| XM_006715799.2:c.810C>T | XP_006715862.1:p.Thr270= | |
| XM_011515589.1:c.1335C>T | XP_011513891.1:p.Thr445= | |
| XM_011515590.1:c.991+14436C>T | XP_011513892.1:n.991+14436C>T | |
| NM_001363466.1:c.*371C>T | NP_001350395.1:n.*371C>T | |
| NM_001363467.1:c.*329C>T | NP_001350396.1:n.*329C>T | |
| XM_011515589.2:c.1335C>T | XP_011513891.1:p.Thr445= | |
| XM_011515590.2:c.991+14436C>T | XP_011513892.1:n.991+14436C>T | |
| NM_001363466.2:c.*371C>T | NP_001350395.1:n.*371C>T | |
| NM_001363467.2:c.*329C>T | NP_001350396.1:n.*329C>T | |
| NM_032581.4:c.1335C>T MANE Select | NP_115970.2:p.Thr445= |