Linked Data
ClinVar Variation Id:
803180
ClinVar RCV Id:
RCV000989475
dbSNP Id:
rs1596350022
gnomAD v4:
16-3243406-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243406A>T , CM000678.2:g.3243406A>T | GRCh38 |
| NC_000016.9:g.3293406A>T , CM000678.1:g.3293406A>T | GRCh37 |
| NC_000016.8:g.3233407A>T | NCBI36 |
| NG_007871.1:g.18222T>A , LRG_190:g.18222T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1202T>A | ||
| ENST00000219596.6:c.2081T>A MANE Select | ENSP00000219596.1:p.Met694Lys | |
| ENST00000219596.5:c.2081T>A | ENSP00000219596.1:p.Met694Lys | |
| ENST00000339854.8:c.1541T>A | ENSP00000339639.4:p.Met514Lys | |
| ENST00000536379.5:c.1448T>A | ENSP00000445079.1:p.Met483Lys | |
| ENST00000536980.5:c.*357T>A | ENSP00000444178.1:n.*357T>A | |
| ENST00000537682.5:c.*357T>A | ENSP00000438611.1:n.*357T>A | |
| ENST00000538326.5:c.*706T>A | ENSP00000437486.1:n.*706T>A | |
| ENST00000539145.5:c.1002T>A | ENSP00000444471.1:n.1002T>A | |
| ENST00000541159.5:c.1623T>A | ENSP00000438711.1:n.1623T>A | |
| ENST00000542898.5:c.*357T>A | ENSP00000444615.1:n.*357T>A | |
| ENST00000570511.5:c.1486T>A | ENSP00000458312.1:n.1486T>A | |
| ENST00000572244.5:c.771T>A | ENSP00000461186.1:n.771T>A | |
| ENST00000574583.5:c.853T>A | ENSP00000460269.1:n.853T>A | |
| ENST00000576315.5:c.886T>A | ENSP00000460551.1:n.886T>A | |
| ENST00000621655.1:c.1618T>A | ENSP00000481436.1:n.1618T>A | |
| NM_000243.2:c.2081T>A , LRG_190t1:c.2081T>A | NP_000234.1:p.Met694Lys | |
| NM_001198536.1:c.*285T>A | NP_001185465.1:n.*285T>A | |
| XM_017023236.2:c.2078T>A | XP_016878725.1:p.Met693Lys | |
| NM_000243.3:c.2081T>A MANE Select | NP_000234.1:p.Met694Lys | |
| NM_001198536.2:c.*285T>A | NP_001185465.2:n.*285T>A |