Linked Data
ClinVar Variation Id:
2502999
ClinVar RCV Id:
RCV003229733
dbSNP Id:
rs1422279980
gnomAD v4:
16-68829612-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829612C>G , CM000678.2:g.68829612C>G | GRCh38 |
| NC_000016.9:g.68863515C>G , CM000678.1:g.68863515C>G | GRCh37 |
| NC_000016.8:g.67421016C>G | NCBI36 |
| NG_008021.1:g.97321C>G , LRG_301:g.97321C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2296-42C>G MANE Select | ENSP00000261769.4:n.2296-42C>G | |
| ENST00000261769.9:c.2296-42C>G | ENSP00000261769.4:n.2296-42C>G | |
| ENST00000422392.6:c.2113-42C>G | ENSP00000414946.2:n.2113-42C>G | |
| ENST00000562118.1:n.514-42C>G | ||
| ENST00000562836.5:n.2367-42C>G | ||
| ENST00000566510.5:c.*962-42C>G | ENSP00000458139.1:n.*962-42C>G | |
| ENST00000566612.5:c.*536-42C>G | ENSP00000454782.1:n.*536-42C>G | |
| ENST00000611625.4:c.2359-42C>G | ENSP00000481063.1:n.2359-42C>G | |
| ENST00000612417.4:c.1853+3058C>G | ENSP00000478360.1:n.1853+3058C>G | |
| ENST00000621016.4:c.1866-4591C>G | ENSP00000480664.1:n.1866-4591C>G | |
| NM_004360.3:c.2296-42C>G , LRG_301t1:c.2296-42C>G | NP_004351.1:n.2296-42C>G | |
| XM_011523488.1:c.1561-42C>G | XP_011521790.1:n.1561-42C>G | |
| XM_011523489.1:c.1561-42C>G | XP_011521791.1:n.1561-42C>G | |
| NM_001317184.1:c.2113-42C>G | NP_001304113.1:n.2113-42C>G | |
| NM_001317185.1:c.748-42C>G | NP_001304114.1:n.748-42C>G | |
| NM_001317186.1:c.331-42C>G | NP_001304115.1:n.331-42C>G | |
| NM_004360.4:c.2296-42C>G | NP_004351.1:n.2296-42C>G | |
| NM_004360.5:c.2296-42C>G MANE Select | NP_004351.1:n.2296-42C>G | |
| NM_001317184.2:c.2113-42C>G | NP_001304113.1:n.2113-42C>G | |
| NM_001317185.2:c.748-42C>G | NP_001304114.1:n.748-42C>G | |
| NM_001317186.2:c.331-42C>G | NP_001304115.1:n.331-42C>G |