Linked Data
ClinVar Variation Id:
375253
ClinVar RCV Id:
RCV000416346
RCV001805036
RCV002480275
RCV002521488
RCV003126719
RCV003133255
RCV003126718
dbSNP Id:
rs1057519328
gnomAD v3:
16-3249592-G-C
gnomAD v4:
16-3249592-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3249592G>C , CM000678.2:g.3249592G>C | GRCh38 |
| NC_000016.9:g.3299592G>C , CM000678.1:g.3299592G>C | GRCh37 |
| NC_000016.8:g.3239593G>C | NCBI36 |
| NG_007871.1:g.12036C>G , LRG_190:g.12036C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1099C>G MANE Select | ENSP00000219596.1:p.Leu367Val | |
| ENST00000219596.5:c.1099C>G | ENSP00000219596.1:p.Leu367Val | |
| ENST00000339854.8:c.559C>G | ENSP00000339639.4:p.Leu187Val | |
| ENST00000536379.5:c.466C>G | ENSP00000445079.1:p.Leu156Val | |
| ENST00000536980.5:c.466C>G | ENSP00000444178.1:p.Leu156Val | |
| ENST00000537682.5:c.1099C>G | ENSP00000438611.1:p.Leu367Val | |
| ENST00000538326.5:c.1099C>G | ENSP00000437486.1:p.Leu367Val | |
| ENST00000539145.5:c.278-2346C>G | ENSP00000444471.1:n.278-2346C>G | |
| ENST00000541159.5:c.466C>G | ENSP00000438711.1:p.Leu156Val | |
| ENST00000542898.5:c.1192C>G | ENSP00000444615.1:p.Leu398Val | |
| ENST00000570511.5:c.911-2346C>G | ENSP00000458312.1:n.911-2346C>G | |
| ENST00000572244.5:c.278-3045C>G | ENSP00000461186.1:n.278-3045C>G | |
| ENST00000574583.5:c.278-2346C>G | ENSP00000460269.1:n.278-2346C>G | |
| ENST00000576315.5:c.278-2346C>G | ENSP00000460551.1:n.278-2346C>G | |
| ENST00000621655.1:c.466C>G | ENSP00000481436.1:p.Leu156Val | |
| NM_000243.2:c.1099C>G , LRG_190t1:c.1099C>G | NP_000234.1:p.Leu367Val | |
| NM_001198536.1:c.466C>G | NP_001185465.1:p.Leu156Val | |
| XM_017023236.2:c.1099C>G | XP_016878725.1:p.Leu367Val | |
| XR_001751903.1:n.1288C>G | ||
| NM_000243.3:c.1099C>G MANE Select | NP_000234.1:p.Leu367Val | |
| NM_001198536.2:c.466C>G | NP_001185465.2:p.Leu156Val |