Linked Data
ClinVar Variation Id:
718234
ClinVar RCV Id:
RCV000891154
dbSNP Id:
rs199615189
gnomAD v4:
3-122284246-G-C
MyVariant Identifiers:
chr3:g.122003093G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284246G>C , CM000665.2:g.122284246G>C | GRCh38 |
| NC_000003.11:g.122003093G>C , CM000665.1:g.122003093G>C | GRCh37 |
| NC_000003.10:g.123485783G>C | NCBI36 |
| NG_009058.1:g.105564G>C | |
| NG_009058.2:g.105579G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.2061G>C | ENSP00000418685.2:p.Thr687= | |
| ENST00000498619.4:c.2322G>C | ENSP00000420194.1:p.Thr774= | |
| ENST00000638421.1:c.2292G>C | ENSP00000492190.1:p.Thr764= | |
| ENST00000639785.2:c.2292G>C MANE Select | ENSP00000491584.2:p.Thr764= | |
| ENST00000490131.5:c.2292G>C | ENSP00000418685.1:p.Thr764= | |
| ENST00000498619.2:c.2322G>C | ENSP00000420194.1:p.Thr774= | |
| NM_000388.3:c.2292G>C | NP_000379.2:p.Thr764= | |
| NM_001178065.1:c.2322G>C | NP_001171536.1:p.Thr774= | |
| XM_005247836.2:c.2292G>C | XP_005247893.1:p.Thr764= | |
| XM_005247837.2:c.1809G>C | XP_005247894.1:p.Thr603= | |
| XM_006713789.2:c.2292G>C | XP_006713852.1:p.Thr764= | |
| XM_011513237.1:c.2292G>C | XP_011511539.1:p.Thr764= | |
| XM_011513238.1:c.2292G>C | XP_011511540.1:p.Thr764= | |
| XM_011513239.1:c.1704G>C | XP_011511541.1:p.Thr568= | |
| XM_006713789.3:c.2292G>C | XP_006713852.1:p.Thr764= | |
| XM_017007324.1:c.2292G>C | XP_016862813.1:p.Thr764= | |
| XM_017007325.1:c.2292G>C | XP_016862814.1:p.Thr764= | |
| NM_000388.4:c.2292G>C MANE Select | NP_000379.3:p.Thr764= | |
| NM_001178065.2:c.2322G>C | NP_001171536.2:p.Thr774= |