Linked Data
ClinVar Variation Id:
540389
dbSNP Id:
rs769697590
ExAC:
4:151236769 T / C
gnomAD v2:
4-151236769-T-C
gnomAD v3:
4-150315617-T-C
gnomAD v4:
4-150315617-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150315617T>C , CM000666.2:g.150315617T>C | GRCh38 |
| NC_000004.11:g.151236769T>C , CM000666.1:g.151236769T>C | GRCh37 |
| NC_000004.10:g.151456219T>C | NCBI36 |
| NG_032855.1:g.704881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510157.2:n.253A>G | ||
| ENST00000651695.2:c.7652A>G | ENSP00000498254.2:p.Gln2551Arg | |
| ENST00000697127.1:c.1310A>G | ENSP00000513124.1:p.Gln437Arg | |
| ENST00000697128.1:c.1989A>G | ||
| ENST00000697130.1:n.37A>G | ||
| ENST00000357115.9:c.7670A>G | ENSP00000349629.3:p.Gln2557Arg | |
| ENST00000648626.1:n.2102A>G | ||
| ENST00000648823.1:c.1367A>G | ||
| ENST00000648878.1:c.1130A>G | ENSP00000497002.1:p.Gln377Arg | |
| ENST00000649874.1:c.707A>G | ENSP00000497438.1:p.Gln236Arg | |
| ENST00000651035.1:c.*1998A>G | ENSP00000498673.1:n.*1998A>G | |
| ENST00000651695.1:c.5366A>G | ENSP00000498254.1:p.Gln1789Arg | |
| ENST00000651943.2:c.7637A>G MANE Select | ENSP00000498582.2:p.Gln2546Arg | |
| ENST00000357115.7:c.7670A>G | ENSP00000349629.3:p.Gln2557Arg | |
| ENST00000503716.5:n.1727A>G | ||
| ENST00000507224.5:c.7637A>G | ENSP00000422180.1:p.Gln2546Arg | |
| ENST00000509835.5:c.3595A>G | ||
| ENST00000510157.1:n.18A>G | ||
| ENST00000510413.5:c.7637A>G | ENSP00000421552.1:p.Gln2546Arg | |
| NM_001199282.2:c.7637A>G | NP_001186211.2:p.Gln2546Arg | |
| NM_006726.4:c.7670A>G | NP_006717.2:p.Gln2557Arg | |
| XM_005263372.2:c.7685A>G | XP_005263429.1:p.Gln2562Arg | |
| XM_005263373.1:c.7685A>G | XP_005263430.1:p.Gln2562Arg | |
| XM_005263374.2:c.7652A>G | XP_005263431.1:p.Gln2551Arg | |
| XM_005263375.2:c.7637A>G | XP_005263432.1:p.Gln2546Arg | |
| XM_011532434.1:c.7670A>G | XP_011530736.1:p.Gln2557Arg | |
| NM_001364905.1:c.7637A>G MANE Select | NP_001351834.1:p.Gln2546Arg | |
| XM_005263372.3:c.7685A>G | XP_005263429.1:p.Gln2562Arg | |
| XM_005263373.3:c.7685A>G | XP_005263430.1:p.Gln2562Arg | |
| XM_005263374.3:c.7652A>G | XP_005263431.1:p.Gln2551Arg | |
| XM_011532434.2:c.7670A>G | XP_011530736.1:p.Gln2557Arg | |
| XM_017008872.2:c.7652A>G | XP_016864361.1:p.Gln2551Arg | |
| XM_017008873.2:c.1355A>G | XP_016864362.1:p.Gln452Arg | |
| XM_017008874.1:c.1349A>G | XP_016864363.1:p.Gln450Arg | |
| NM_001367550.1:c.7652A>G | NP_001354479.1:p.Gln2551Arg |