Linked Data
dbSNP Id:
rs760439284
ExAC:
16:3293385 G / A
gnomAD v2:
16-3293385-G-A
gnomAD v3:
16-3243385-G-A
gnomAD v4:
16-3243385-G-A
COSMIC:
COSM5505574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243385G>A , CM000678.2:g.3243385G>A | GRCh38 |
| NC_000016.9:g.3293385G>A , CM000678.1:g.3293385G>A | GRCh37 |
| NC_000016.8:g.3233386G>A | NCBI36 |
| NG_007871.1:g.18243C>T , LRG_190:g.18243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1223C>T | ||
| ENST00000219596.6:c.2102C>T MANE Select | ENSP00000219596.1:p.Ala701Val | |
| ENST00000219596.5:c.2102C>T | ENSP00000219596.1:p.Ala701Val | |
| ENST00000339854.8:c.1562C>T | ENSP00000339639.4:p.Ala521Val | |
| ENST00000536379.5:c.1469C>T | ENSP00000445079.1:p.Ala490Val | |
| ENST00000536980.5:c.*378C>T | ENSP00000444178.1:n.*378C>T | |
| ENST00000537682.5:c.*378C>T | ENSP00000438611.1:n.*378C>T | |
| ENST00000538326.5:c.*727C>T | ENSP00000437486.1:n.*727C>T | |
| ENST00000539145.5:c.1023C>T | ENSP00000444471.1:n.1023C>T | |
| ENST00000541159.5:c.1644C>T | ENSP00000438711.1:n.1644C>T | |
| ENST00000542898.5:c.*378C>T | ENSP00000444615.1:n.*378C>T | |
| ENST00000570511.5:c.1507C>T | ENSP00000458312.1:n.1507C>T | |
| ENST00000572244.5:c.792C>T | ENSP00000461186.1:n.792C>T | |
| ENST00000574583.5:c.874C>T | ENSP00000460269.1:n.874C>T | |
| ENST00000576315.5:c.907C>T | ENSP00000460551.1:n.907C>T | |
| ENST00000621655.1:c.1639C>T | ENSP00000481436.1:n.1639C>T | |
| NM_000243.2:c.2102C>T , LRG_190t1:c.2102C>T | NP_000234.1:p.Ala701Val | |
| NM_001198536.1:c.*306C>T | NP_001185465.1:n.*306C>T | |
| XM_017023236.2:c.2099C>T | XP_016878725.1:p.Ala700Val | |
| NM_000243.3:c.2102C>T MANE Select | NP_000234.1:p.Ala701Val | |
| NM_001198536.2:c.*306C>T | NP_001185465.2:n.*306C>T |