Linked Data
ClinVar Variation Id:
2579700
ClinVar RCV Id:
RCV003328499
dbSNP Id:
rs1962418098
gnomAD v4:
16-68737344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737344T>C , CM000678.2:g.68737344T>C | GRCh38 |
| NC_000016.9:g.68771247T>C , CM000678.1:g.68771247T>C | GRCh37 |
| NC_000016.8:g.67328748T>C | NCBI36 |
| NG_008021.1:g.5053T>C , LRG_301:g.5053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.-72T>C MANE Select | ENSP00000261769.4:n.-72T>C | |
| ENST00000261769.9:c.-72T>C | ENSP00000261769.4:n.-72T>C | |
| ENST00000566612.5:c.-72T>C | ENSP00000454782.1:n.-72T>C | |
| ENST00000611625.4:c.-72T>C | ENSP00000481063.1:n.-72T>C | |
| ENST00000612417.4:c.-72T>C | ENSP00000478360.1:n.-72T>C | |
| ENST00000621016.4:c.-72T>C | ENSP00000480664.1:n.-72T>C | |
| NM_004360.3:c.-72T>C , LRG_301t1:c.-72T>C | NP_004351.1:n.-72T>C | |
| NM_001317184.1:c.-72T>C | NP_001304113.1:n.-72T>C | |
| NM_001317185.1:c.-1687T>C | NP_001304114.1:n.-1687T>C | |
| NM_001317186.1:c.-1891T>C | NP_001304115.1:n.-1891T>C | |
| NM_004360.4:c.-72T>C | NP_004351.1:n.-72T>C | |
| NM_004360.5:c.-72T>C MANE Select | NP_004351.1:n.-72T>C | |
| NM_001317184.2:c.-72T>C | NP_001304113.1:n.-72T>C | |
| NM_001317185.2:c.-1687T>C | NP_001304114.1:n.-1687T>C | |
| NM_001317186.2:c.-1891T>C | NP_001304115.1:n.-1891T>C |