Linked Data
ClinVar Variation Id:
97504
ClinVar RCV Id:
RCV000083756
dbSNP Id:
rs104895152
gnomAD v2:
16-3293258-G-A
gnomAD v3:
16-3243258-G-A
gnomAD v4:
16-3243258-G-A
COSMIC:
COSM2918912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243258G>A , CM000678.2:g.3243258G>A | GRCh38 |
| NC_000016.9:g.3293258G>A , CM000678.1:g.3293258G>A | GRCh37 |
| NC_000016.8:g.3233259G>A | NCBI36 |
| NG_007871.1:g.18370C>T , LRG_190:g.18370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1350C>T | ||
| ENST00000219596.6:c.2229C>T MANE Select | ENSP00000219596.1:p.Phe743= | |
| ENST00000219596.5:c.2229C>T | ENSP00000219596.1:p.Phe743= | |
| ENST00000339854.8:c.1689C>T | ENSP00000339639.4:p.Phe563= | |
| ENST00000536379.5:c.1596C>T | ENSP00000445079.1:p.Phe532= | |
| ENST00000536980.5:c.*505C>T | ENSP00000444178.1:n.*505C>T | |
| ENST00000537682.5:c.*505C>T | ENSP00000438611.1:n.*505C>T | |
| ENST00000538326.5:c.*854C>T | ENSP00000437486.1:n.*854C>T | |
| ENST00000539145.5:c.1150C>T | ENSP00000444471.1:n.1150C>T | |
| ENST00000541159.5:c.1771C>T | ENSP00000438711.1:n.1771C>T | |
| ENST00000542898.5:c.*505C>T | ENSP00000444615.1:n.*505C>T | |
| ENST00000570511.5:c.1634C>T | ENSP00000458312.1:n.1634C>T | |
| ENST00000572244.5:c.919C>T | ENSP00000461186.1:n.919C>T | |
| ENST00000574583.5:c.1001C>T | ENSP00000460269.1:n.1001C>T | |
| ENST00000576315.5:c.1034C>T | ENSP00000460551.1:n.1034C>T | |
| ENST00000621655.1:c.1766C>T | ENSP00000481436.1:n.1766C>T | |
| NM_000243.2:c.2229C>T , LRG_190t1:c.2229C>T | NP_000234.1:p.Phe743= | |
| NM_001198536.1:c.*433C>T | NP_001185465.1:n.*433C>T | |
| XM_017023236.2:c.2226C>T | XP_016878725.1:p.Phe742= | |
| NM_000243.3:c.2229C>T MANE Select | NP_000234.1:p.Phe743= | |
| NM_001198536.2:c.*433C>T | NP_001185465.2:n.*433C>T |