Linked Data
ClinVar Variation Id:
389771
dbSNP Id:
rs781683199
ExAC:
18:67727149 G / A
gnomAD v2:
18-67727149-G-A
gnomAD v3:
18-70059913-G-A
gnomAD v4:
18-70059913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70059913G>A , CM000680.2:g.70059913G>A | GRCh38 |
| NC_000018.9:g.67727149G>A , CM000680.1:g.67727149G>A | GRCh37 |
| NC_000018.8:g.65878129G>A | NCBI36 |
| NG_033104.1:g.150814C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255674.11:c.4877C>T | ENSP00000255674.7:p.Thr1626Met | |
| ENST00000579986.6:c.964C>T | ENSP00000491518.1:n.964C>T | |
| ENST00000639128.1:n.2423C>T | ||
| ENST00000639487.1:c.31C>T | ||
| ENST00000640769.2:c.4877C>T MANE Select | ENSP00000491507.1:p.Thr1626Met | |
| ENST00000677824.1:c.2276C>T | ENSP00000504646.1:p.Thr759Met | |
| ENST00000679113.1:c.2229C>T | ENSP00000504487.1:n.2229C>T | |
| ENST00000255674.10:c.4877C>T | ENSP00000255674.6:p.Thr1626Met | |
| ENST00000581161.5:c.*3191C>T | ENSP00000462926.1:n.*3191C>T | |
| ENST00000583043.5:c.4158C>T | ENSP00000462733.1:n.4158C>T | |
| NM_173630.3:c.4877C>T | NP_775901.3:p.Thr1626Met | |
| XM_005266679.1:c.2141C>T | XP_005266736.1:p.Thr714Met | |
| XM_006722434.2:c.4880C>T | XP_006722497.1:p.Thr1627Met | |
| XM_006722435.2:c.4880C>T | XP_006722498.1:p.Thr1627Met | |
| XM_011525902.1:c.4640C>T | XP_011524204.1:p.Thr1547Met | |
| XM_011525903.1:c.4451C>T | XP_011524205.1:p.Thr1484Met | |
| XM_011525904.1:c.4880C>T | XP_011524206.1:p.Thr1627Met | |
| XM_011525905.1:c.4880C>T | XP_011524207.1:p.Thr1627Met | |
| XM_011525906.1:c.3380C>T | XP_011524208.1:p.Thr1127Met | |
| XR_430072.2:n.4918C>T | ||
| NM_001318520.1:c.2141C>T | NP_001305449.1:p.Thr714Met | |
| XM_006722434.3:c.4880C>T | XP_006722497.1:p.Thr1627Met | |
| XM_006722435.3:c.4880C>T | XP_006722498.1:p.Thr1627Met | |
| XM_011525902.2:c.4640C>T | XP_011524204.1:p.Thr1547Met | |
| XM_011525903.2:c.4451C>T | XP_011524205.1:p.Thr1484Met | |
| XM_011525904.3:c.4880C>T | XP_011524206.1:p.Thr1627Met | |
| XM_011525905.2:c.4880C>T | XP_011524207.1:p.Thr1627Met | |
| XM_011525906.2:c.3380C>T | XP_011524208.1:p.Thr1127Met | |
| XM_017025693.1:c.4637C>T | XP_016881182.1:p.Thr1546Met | |
| XM_017025694.1:c.4238C>T | XP_016881183.1:p.Thr1413Met | |
| XM_017025695.1:c.3815C>T | XP_016881184.1:p.Thr1272Met | |
| XM_017025696.1:c.2771C>T | XP_016881185.1:p.Thr924Met | |
| XM_024451139.1:c.4100C>T | XP_024306907.1:p.Thr1367Met | |
| XM_024451140.1:c.4100C>T | XP_024306908.1:p.Thr1367Met | |
| XR_430072.3:n.4948C>T | ||
| NM_001318520.2:c.2141C>T | NP_001305449.1:p.Thr714Met | |
| NM_173630.4:c.4877C>T MANE Select | NP_775901.3:p.Thr1626Met |