Linked Data
ClinVar Variation Id:
1364767
ClinVar RCV Id:
RCV001937530
dbSNP Id:
rs763686863
ExAC:
9:2650394 T / A
gnomAD v2:
9-2650394-T-A
gnomAD v4:
9-2650394-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2650394T>A , CM000671.2:g.2650394T>A | GRCh38 |
| NC_000009.11:g.2650394T>A , CM000671.1:g.2650394T>A | GRCh37 |
| NC_000009.10:g.2640394T>A | NCBI36 |
| NG_012741.1:g.33602T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1687T>A | ||
| ENST00000382100.8:c.2129T>A MANE Select | ENSP00000371532.2:p.Met710Lys | |
| ENST00000679488.1:n.1555T>A | ||
| ENST00000679718.1:n.1365T>A | ||
| ENST00000679750.1:n.1545T>A | ||
| ENST00000679780.1:n.905T>A | ||
| ENST00000679851.1:n.2928T>A | ||
| ENST00000680021.1:n.2329T>A | ||
| ENST00000680043.1:c.1681T>A | ||
| ENST00000680219.1:c.1696T>A | ||
| ENST00000680243.1:c.*1768T>A | ENSP00000505911.1:n.*1768T>A | |
| ENST00000680296.1:c.1555T>A | ||
| ENST00000680332.1:n.1762T>A | ||
| ENST00000680440.1:n.269T>A | ||
| ENST00000680746.1:c.2006T>A | ENSP00000505030.1:p.Met669Lys | |
| ENST00000680751.1:n.1534T>A | ||
| ENST00000680891.1:c.*1921T>A | ENSP00000505167.1:n.*1921T>A | |
| ENST00000680975.1:n.1514T>A | ||
| ENST00000681087.1:n.1434T>A | ||
| ENST00000681306.1:c.2129T>A | ENSP00000506072.1:p.Met710Lys | |
| ENST00000681486.1:n.229T>A | ||
| ENST00000681618.1:c.2006T>A | ENSP00000505773.1:p.Met669Lys | |
| ENST00000681644.1:c.*1801T>A | ENSP00000505180.1:n.*1801T>A | |
| ENST00000681806.1:c.*567T>A | ENSP00000505282.1:n.*567T>A | |
| ENST00000681942.1:c.1612T>A | ||
| ENST00000382099.2:c.2129T>A | ENSP00000371531.2:p.Met710Lys | |
| ENST00000382100.7:c.2129T>A | ENSP00000371532.2:p.Met710Lys | |
| NM_001018056.1:c.2129T>A | NP_001018066.1:p.Met710Lys | |
| NM_003383.3:c.2129T>A | NP_003374.3:p.Met710Lys | |
| XM_011518029.1:c.2006T>A | XP_011516331.1:p.Met669Lys | |
| NM_001018056.2:c.2129T>A | NP_001018066.1:p.Met710Lys | |
| NM_001322225.1:c.2006T>A | NP_001309154.1:p.Met669Lys | |
| NM_001322226.1:c.2006T>A | NP_001309155.1:p.Met669Lys | |
| NM_003383.4:c.2129T>A | NP_003374.3:p.Met710Lys | |
| XR_001746373.2:n.2468T>A | ||
| XR_002956805.1:n.2468T>A | ||
| NM_003383.5:c.2129T>A MANE Select | NP_003374.3:p.Met710Lys | |
| NM_001018056.3:c.2129T>A | NP_001018066.1:p.Met710Lys | |
| NM_001322225.2:c.2006T>A | NP_001309154.1:p.Met669Lys | |
| NM_001322226.2:c.2006T>A | NP_001309155.1:p.Met669Lys |