Linked Data
ClinVar Variation Id:
97456
dbSNP Id:
rs104895165
ExAC:
16:3294269 T / G
gnomAD v2:
16-3294269-T-G
gnomAD v3:
16-3244269-T-G
gnomAD v4:
16-3244269-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244269T>G , CM000678.2:g.3244269T>G | GRCh38 |
| NC_000016.9:g.3294269T>G , CM000678.1:g.3294269T>G | GRCh37 |
| NC_000016.8:g.3234270T>G | NCBI36 |
| NG_007871.1:g.17359A>C , LRG_190:g.17359A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.865A>C | ||
| ENST00000219596.6:c.1744A>C MANE Select | ENSP00000219596.1:p.Met582Leu | |
| ENST00000219596.5:c.1744A>C | ENSP00000219596.1:p.Met582Leu | |
| ENST00000339854.8:c.1204A>C | ENSP00000339639.4:p.Met402Leu | |
| ENST00000536379.5:c.1111A>C | ENSP00000445079.1:p.Met371Leu | |
| ENST00000536980.5:c.1111A>C | ENSP00000444178.1:p.Met371Leu | |
| ENST00000537682.5:c.1744A>C | ENSP00000438611.1:p.Met582Leu | |
| ENST00000538326.5:c.*369A>C | ENSP00000437486.1:n.*369A>C | |
| ENST00000539145.5:c.665A>C | ENSP00000444471.1:n.665A>C | |
| ENST00000541159.5:c.1111A>C | ENSP00000438711.1:p.Met371Leu | |
| ENST00000542898.5:c.1837A>C | ENSP00000444615.1:p.Met613Leu | |
| ENST00000570511.5:c.1165-377A>C | ENSP00000458312.1:n.1165-377A>C | |
| ENST00000572244.5:c.434A>C | ENSP00000461186.1:n.434A>C | |
| ENST00000574583.5:c.532-377A>C | ENSP00000460269.1:n.532-377A>C | |
| ENST00000576315.5:c.549A>C | ENSP00000460551.1:n.549A>C | |
| ENST00000621655.1:c.1111A>C | ENSP00000481436.1:p.Met371Leu | |
| NM_000243.2:c.1744A>C , LRG_190t1:c.1744A>C | NP_000234.1:p.Met582Leu | |
| NM_001198536.1:c.1111A>C | NP_001185465.1:p.Met371Leu | |
| XM_017023236.2:c.1741A>C | XP_016878725.1:p.Met581Leu | |
| XR_001751903.1:n.1933A>C | ||
| NM_000243.3:c.1744A>C MANE Select | NP_000234.1:p.Met582Leu | |
| NM_001198536.2:c.1111A>C | NP_001185465.2:p.Met371Leu |