Linked Data
ClinVar Variation Id:
323648
dbSNP Id:
rs148501218
ExAC:
17:44096081 C / T
gnomAD v2:
17-44096081-C-T
gnomAD v3:
17-46018715-C-T
gnomAD v4:
17-46018715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46018715C>T , CM000679.2:g.46018715C>T | GRCh38 |
| NC_000017.10:g.44096081C>T , CM000679.1:g.44096081C>T | GRCh37 |
| NC_000017.9:g.41451928C>T | NCBI36 |
| NG_007398.1:g.129305C>T | |
| NG_007398.2:g.129253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.1008C>T | ENSP00000413056.2:p.Gly336= | |
| ENST00000703922.1:c.1008C>T | ENSP00000515557.1:p.Gly336= | |
| ENST00000703923.1:c.921C>T | ENSP00000515558.1:p.Gly307= | |
| ENST00000703924.1:c.1008C>T | ENSP00000515559.1:p.Gly336= | |
| ENST00000703978.1:c.1095C>T | ENSP00000515600.1:p.Gly365= | |
| ENST00000703980.1:n.321C>T | ||
| ENST00000703981.1:n.279C>T | ||
| ENST00000703982.1:n.513C>T | ||
| ENST00000262410.10:c.2271C>T MANE Select | ENSP00000262410.6:p.Gly757= | |
| ENST00000344290.10:c.1980C>T | ENSP00000340820.6:p.Gly660= | |
| ENST00000351559.10:c.1095C>T | ENSP00000303214.7:p.Gly365= | |
| ENST00000535772.6:c.915C>T | ENSP00000443028.2:p.Gly305= | |
| ENST00000680542.1:c.1008C>T | ENSP00000505258.1:p.Gly336= | |
| ENST00000680674.1:c.1044C>T | ENSP00000505478.1:p.Gly348= | |
| ENST00000262410.9:c.2046C>T | ENSP00000262410.5:p.Gly682= | |
| ENST00000334239.12:c.828C>T | ENSP00000334886.8:p.Gly276= | |
| ENST00000340799.9:c.1008C>T | ENSP00000340438.5:p.Gly336= | |
| ENST00000344290.9:c.2100C>T | ENSP00000340820.5:p.Gly700= | |
| ENST00000351559.9:c.1095C>T | ENSP00000303214.7:p.Gly365= | |
| ENST00000415613.6:c.2100C>T | ENSP00000410838.2:p.Gly700= | |
| ENST00000420682.6:c.1008C>T | ENSP00000413056.2:p.Gly336= | |
| ENST00000431008.7:c.1002C>T | ENSP00000389250.3:p.Gly334= | |
| ENST00000446361.7:c.921C>T | ENSP00000408975.3:p.Gly307= | |
| ENST00000535772.5:c.1002C>T | ENSP00000443028.1:p.Gly334= | |
| ENST00000570299.5:n.874C>T | ||
| ENST00000571987.5:c.2046C>T | ENSP00000458742.1:p.Gly682= | |
| ENST00000574436.5:c.1095C>T | ENSP00000460965.1:p.Gly365= | |
| ENST00000576518.1:n.6287C>T | ||
| NM_001123066.3:c.2100C>T | NP_001116538.2:p.Gly700= | |
| NM_001123067.3:c.1008C>T | NP_001116539.1:p.Gly336= | |
| NM_001203251.1:c.915C>T | NP_001190180.1:p.Gly305= | |
| NM_001203252.1:c.1002C>T | NP_001190181.1:p.Gly334= | |
| NM_005910.5:c.1095C>T | NP_005901.2:p.Gly365= | |
| NM_016834.4:c.921C>T | NP_058518.1:p.Gly307= | |
| NM_016835.4:c.2046C>T | NP_058519.3:p.Gly682= | |
| NM_016841.4:c.828C>T | NP_058525.1:p.Gly276= | |
| XM_005257362.3:c.2358C>T | XP_005257419.1:p.Gly786= | |
| XM_005257364.3:c.2271C>T | XP_005257421.1:p.Gly757= | |
| XM_005257365.3:c.2265C>T | XP_005257422.1:p.Gly755= | |
| XM_005257366.2:c.2184C>T | XP_005257423.1:p.Gly728= | |
| XM_005257367.3:c.2160C>T | XP_005257424.1:p.Gly720= | |
| XM_005257368.3:c.2067C>T | XP_005257425.1:p.Gly689= | |
| XM_005257369.3:c.1293C>T | XP_005257426.1:p.Gly431= | |
| XM_005257370.3:c.1206C>T | XP_005257427.1:p.Gly402= | |
| XM_005257371.3:c.1119C>T | XP_005257428.1:p.Gly373= | |
| XM_005257362.4:c.2358C>T | XP_005257419.1:p.Gly786= | |
| XM_005257364.4:c.2271C>T | XP_005257421.1:p.Gly757= | |
| XM_005257365.4:c.2265C>T | XP_005257422.1:p.Gly755= | |
| XM_005257366.3:c.2184C>T | XP_005257423.1:p.Gly728= | |
| XM_005257367.4:c.2160C>T | XP_005257424.1:p.Gly720= | |
| XM_005257368.4:c.2067C>T | XP_005257425.1:p.Gly689= | |
| XM_005257369.4:c.1293C>T | XP_005257426.1:p.Gly431= | |
| XM_005257370.4:c.1206C>T | XP_005257427.1:p.Gly402= | |
| XM_005257371.4:c.1119C>T | XP_005257428.1:p.Gly373= | |
| NM_001203251.2:c.915C>T | NP_001190180.1:p.Gly305= | |
| NM_001377265.1:c.2271C>T MANE Select | NP_001364194.1:p.Gly757= | |
| NM_001377266.1:c.1980C>T | NP_001364195.1:p.Gly660= | |
| NM_001377267.1:c.771+4437C>T | NP_001364196.1:n.771+4437C>T | |
| NM_001377268.1:c.828C>T | NP_001364197.1:p.Gly276= | |
| NM_016834.5:c.921C>T | NP_058518.1:p.Gly307= | |
| NM_016841.5:c.828C>T | NP_058525.1:p.Gly276= | |
| NR_165166.1:n.926C>T | ||
| NM_001123066.4:c.2100C>T | NP_001116538.2:p.Gly700= | |
| NM_001123067.4:c.1008C>T | NP_001116539.1:p.Gly336= | |
| NM_001203252.2:c.1002C>T | NP_001190181.1:p.Gly334= | |
| NM_005910.6:c.1095C>T | NP_005901.2:p.Gly365= | |
| NM_016835.5:c.2046C>T | NP_058519.3:p.Gly682= |