Linked Data
ClinVar Variation Id:
720751
ClinVar RCV Id:
RCV000894111
dbSNP Id:
rs148144911
ExAC:
16:449399 C / T
gnomAD v2:
16-449399-C-T
gnomAD v3:
16-399399-C-T
gnomAD v4:
16-399399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.399399C>T , CM000678.2:g.399399C>T | GRCh38 |
| NC_000016.9:g.449399C>T , CM000678.1:g.449399C>T | GRCh37 |
| NC_000016.8:g.389400C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219479.7:c.246C>T MANE Select | ENSP00000219479.2:p.Ala82= | |
| ENST00000219479.6:c.246C>T | ENSP00000219479.2:p.Ala82= | |
| ENST00000382940.8:c.270C>T | ENSP00000372398.4:p.Ala90= | |
| ENST00000397722.5:c.36C>T | ENSP00000380834.1:p.Ala12= | |
| ENST00000433358.5:c.232C>T | ||
| ENST00000444498.5:c.246C>T | ENSP00000395605.1:p.Ala82= | |
| ENST00000448828.5:c.*298C>T | ENSP00000412039.1:n.*298C>T | |
| ENST00000450036.1:c.36C>T | ENSP00000389048.1:p.Ala12= | |
| ENST00000454619.5:c.36C>T | ENSP00000406317.1:p.Ala12= | |
| ENST00000460297.1:n.1043C>T | ||
| ENST00000468031.1:n.990C>T | ||
| ENST00000620944.4:c.36C>T | ENSP00000479996.1:p.Ala12= | |
| ENST00000621774.4:c.226-228C>T | ENSP00000479681.1:n.226-228C>T | |
| NM_001286433.1:c.226-228C>T | NP_001273362.1:n.226-228C>T | |
| NM_001286435.1:c.246C>T | NP_001273364.1:p.Ala82= | |
| NM_001286436.1:c.36C>T | NP_001273365.1:p.Ala12= | |
| NM_001286438.1:c.36C>T | NP_001273367.1:p.Ala12= | |
| NM_001286439.1:c.36C>T | NP_001273368.1:p.Ala12= | |
| NM_001286440.1:c.36C>T | NP_001273369.1:p.Ala12= | |
| NM_005009.2:c.246C>T | NP_005000.1:p.Ala82= | |
| NM_005009.3:c.246C>T MANE Select | NP_005000.1:p.Ala82= | |
| NM_001286435.2:c.246C>T | NP_001273364.1:p.Ala82= | |
| NM_001286436.2:c.36C>T | NP_001273365.1:p.Ala12= | |
| NM_001286438.2:c.36C>T | NP_001273367.1:p.Ala12= | |
| NM_001286433.2:c.226-228C>T | NP_001273362.1:n.226-228C>T | |
| NM_001286439.2:c.36C>T | NP_001273368.1:p.Ala12= | |
| NM_001286440.2:c.36C>T | NP_001273369.1:p.Ala12= |