Linked Data
ClinVar Variation Id:
1683772
ClinVar RCV Id:
RCV002244293
dbSNP Id:
rs1958909529
gnomAD v3:
16-3244475-G-C
gnomAD v4:
16-3244475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244475G>C , CM000678.2:g.3244475G>C | GRCh38 |
| NC_000016.9:g.3294475G>C , CM000678.1:g.3294475G>C | GRCh37 |
| NC_000016.8:g.3234476G>C | NCBI36 |
| NG_007871.1:g.17153C>G , LRG_190:g.17153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.845C>G | ||
| ENST00000219596.6:c.1724C>G MANE Select | ENSP00000219596.1:p.Ser575Ter | |
| ENST00000219596.5:c.1724C>G | ENSP00000219596.1:p.Ser575Ter | |
| ENST00000339854.8:c.1184C>G | ENSP00000339639.4:p.Ser395Ter | |
| ENST00000536379.5:c.1091C>G | ENSP00000445079.1:p.Ser364Ter | |
| ENST00000536980.5:c.1091C>G | ENSP00000444178.1:p.Ser364Ter | |
| ENST00000537682.5:c.1724C>G | ENSP00000438611.1:p.Ser575Ter | |
| ENST00000538326.5:c.*349C>G | ENSP00000437486.1:n.*349C>G | |
| ENST00000539145.5:c.645C>G | ENSP00000444471.1:n.645C>G | |
| ENST00000541159.5:c.1091C>G | ENSP00000438711.1:p.Ser364Ter | |
| ENST00000542898.5:c.1817C>G | ENSP00000444615.1:p.Ser606Ter | |
| ENST00000570511.5:c.1165-583C>G | ENSP00000458312.1:n.1165-583C>G | |
| ENST00000572244.5:c.414C>G | ENSP00000461186.1:n.414C>G | |
| ENST00000574583.5:c.532-583C>G | ENSP00000460269.1:n.532-583C>G | |
| ENST00000576315.5:c.532-189C>G | ENSP00000460551.1:n.532-189C>G | |
| ENST00000621655.1:c.1091C>G | ENSP00000481436.1:p.Ser364Ter | |
| NM_000243.2:c.1724C>G , LRG_190t1:c.1724C>G | NP_000234.1:p.Ser575Ter | |
| NM_001198536.1:c.1091C>G | NP_001185465.1:p.Ser364Ter | |
| XM_017023236.2:c.1721C>G | XP_016878725.1:p.Ser574Ter | |
| XR_001751903.1:n.1913C>G | ||
| NM_000243.3:c.1724C>G MANE Select | NP_000234.1:p.Ser575Ter | |
| NM_001198536.2:c.1091C>G | NP_001185465.2:p.Ser364Ter |