Linked Data
ClinVar Variation Id:
1929389
ClinVar RCV Id:
RCV002642362
dbSNP Id:
rs771845417
gnomAD v2:
6-129571324-C-G
gnomAD v3:
6-129250179-C-G
gnomAD v4:
6-129250179-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129250179C>G , CM000668.2:g.129250179C>G | GRCh38 |
| NC_000006.11:g.129571324C>G , CM000668.1:g.129571324C>G | GRCh37 |
| NC_000006.10:g.129613017C>G | NCBI36 |
| NG_008678.1:g.372039C>G , LRG_409:g.372039C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.1850C>G | ENSP00000481744.2:p.Thr617Arg | |
| ENST00000618192.5:c.1850C>G | ENSP00000480802.2:p.Thr617Arg | |
| ENST00000421865.3:c.1850C>G MANE Select | ENSP00000400365.2:p.Thr617Arg | |
| ENST00000421865.2:c.1850C>G | ENSP00000400365.2:p.Thr617Arg | |
| ENST00000617695.4:c.1850C>G | ENSP00000481744.1:p.Thr617Arg | |
| ENST00000618192.4:c.1850C>G | ENSP00000480802.1:p.Thr617Arg | |
| NM_000426.3:c.1850C>G , LRG_409t1:c.1850C>G | NP_000417.2:p.Thr617Arg | |
| NM_001079823.1:c.1850C>G | NP_001073291.1:p.Thr617Arg | |
| XM_005266981.2:c.1850C>G | XP_005267038.1:p.Thr617Arg | |
| XM_005266982.2:c.1850C>G | XP_005267039.1:p.Thr617Arg | |
| XM_011535820.1:c.1850C>G | XP_011534122.1:p.Thr617Arg | |
| XM_005266981.3:c.1850C>G | XP_005267038.1:p.Thr617Arg | |
| XM_005266982.3:c.1850C>G | XP_005267039.1:p.Thr617Arg | |
| XM_011535820.2:c.1850C>G | XP_011534122.1:p.Thr617Arg | |
| XM_017010851.2:c.1856C>G | XP_016866340.1:p.Thr619Arg | |
| XM_017010852.1:c.-20C>G | XP_016866341.1:n.-20C>G | |
| XM_017010853.1:c.1850C>G | XP_016866342.1:p.Thr617Arg | |
| NM_000426.4:c.1850C>G MANE Select | NP_000417.3:p.Thr617Arg | |
| NM_001079823.2:c.1850C>G | NP_001073291.2:p.Thr617Arg |