Linked Data
ClinVar Variation Id:
2826614
ClinVar RCV Id:
RCV003625442
dbSNP Id:
rs786201212
gnomAD v4:
16-68737419-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737419G>C , CM000678.2:g.68737419G>C | GRCh38 |
| NC_000016.9:g.68771322G>C , CM000678.1:g.68771322G>C | GRCh37 |
| NC_000016.8:g.67328823G>C | NCBI36 |
| NG_008021.1:g.5128G>C , LRG_301:g.5128G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.4G>C MANE Select | ENSP00000261769.4:p.Gly2Arg | |
| ENST00000261769.9:c.4G>C | ENSP00000261769.4:p.Gly2Arg | |
| ENST00000422392.6:c.4G>C | ENSP00000414946.2:p.Gly2Arg | |
| ENST00000566510.5:c.4G>C | ENSP00000458139.1:p.Gly2Arg | |
| ENST00000566612.5:c.4G>C | ENSP00000454782.1:p.Gly2Arg | |
| ENST00000611625.4:c.4G>C | ENSP00000481063.1:p.Gly2Arg | |
| ENST00000612417.4:c.4G>C | ENSP00000478360.1:p.Gly2Arg | |
| ENST00000621016.4:c.4G>C | ENSP00000480664.1:p.Gly2Arg | |
| NM_004360.3:c.4G>C , LRG_301t1:c.4G>C | NP_004351.1:p.Gly2Arg | |
| NM_001317184.1:c.4G>C | NP_001304113.1:p.Gly2Arg | |
| NM_001317185.1:c.-1612G>C | NP_001304114.1:n.-1612G>C | |
| NM_001317186.1:c.-1816G>C | NP_001304115.1:n.-1816G>C | |
| NM_004360.4:c.4G>C | NP_004351.1:p.Gly2Arg | |
| NM_004360.5:c.4G>C MANE Select | NP_004351.1:p.Gly2Arg | |
| NM_001317184.2:c.4G>C | NP_001304113.1:p.Gly2Arg | |
| NM_001317185.2:c.-1612G>C | NP_001304114.1:n.-1612G>C | |
| NM_001317186.2:c.-1816G>C | NP_001304115.1:n.-1816G>C |