Linked Data
ClinVar Variation Id:
221174
ClinVar RCV Id:
RCV000205917
RCV000583136
RCV000829442
RCV002258830
RCV002500665
RCV003316150
RCV003328272
dbSNP Id:
rs34033771
gnomAD v2:
16-68771248-C-G
gnomAD v3:
16-68737345-C-G
gnomAD v4:
16-68737345-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737345C>G , CM000678.2:g.68737345C>G | GRCh38 |
| NC_000016.9:g.68771248C>G , CM000678.1:g.68771248C>G | GRCh37 |
| NC_000016.8:g.67328749C>G | NCBI36 |
| NG_008021.1:g.5054C>G , LRG_301:g.5054C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.-71C>G MANE Select | ENSP00000261769.4:n.-71C>G | |
| ENST00000261769.9:c.-71C>G | ENSP00000261769.4:n.-71C>G | |
| ENST00000566612.5:c.-71C>G | ENSP00000454782.1:n.-71C>G | |
| ENST00000611625.4:c.-71C>G | ENSP00000481063.1:n.-71C>G | |
| ENST00000612417.4:c.-71C>G | ENSP00000478360.1:n.-71C>G | |
| ENST00000621016.4:c.-71C>G | ENSP00000480664.1:n.-71C>G | |
| NM_004360.3:c.-71C>G , LRG_301t1:c.-71C>G | NP_004351.1:n.-71C>G | |
| NM_001317184.1:c.-71C>G | NP_001304113.1:n.-71C>G | |
| NM_001317185.1:c.-1686C>G | NP_001304114.1:n.-1686C>G | |
| NM_001317186.1:c.-1890C>G | NP_001304115.1:n.-1890C>G | |
| NM_004360.4:c.-71C>G | NP_004351.1:n.-71C>G | |
| NM_004360.5:c.-71C>G MANE Select | NP_004351.1:n.-71C>G | |
| NM_001317184.2:c.-71C>G | NP_001304113.1:n.-71C>G | |
| NM_001317185.2:c.-1686C>G | NP_001304114.1:n.-1686C>G | |
| NM_001317186.2:c.-1890C>G | NP_001304115.1:n.-1890C>G |