Linked Data
ClinVar Variation Id:
3038170
ClinVar RCV Id:
RCV003919659
dbSNP Id:
rs201267349
ExAC:
16:2156647 G / A
gnomAD v2:
16-2156647-G-A
gnomAD v3:
16-2106646-G-A
gnomAD v4:
16-2106646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106646G>A , CM000678.2:g.2106646G>A | GRCh38 |
| NC_000016.9:g.2156647G>A , CM000678.1:g.2156647G>A | GRCh37 |
| NC_000016.8:g.2096648G>A | NCBI36 |
| NG_008617.1:g.34253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7241C>T MANE Select | ENSP00000262304.4:p.Thr2414Met | |
| ENST00000262304.8:c.7241C>T | ENSP00000262304.4:p.Thr2414Met | |
| ENST00000415938.7:n.486C>T | ||
| ENST00000423118.5:c.7241C>T | ENSP00000399501.1:p.Thr2414Met | |
| ENST00000483024.1:c.409C>T | ||
| ENST00000483558.5:n.300C>T | ||
| ENST00000483731.5:n.966C>T | ||
| ENST00000486339.6:n.987C>T | ||
| ENST00000487932.5:c.1928C>T | ENSP00000457132.1:p.Thr643Met | |
| ENST00000496574.6:n.1244C>T | ||
| ENST00000565639.6:n.949C>T | ||
| ENST00000568591.5:c.2402C>T | ENSP00000457162.1:n.2402C>T | |
| ENST00000569983.5:n.597C>T | ||
| NM_000296.3:c.7241C>T | NP_000287.3:p.Thr2414Met | |
| NM_001009944.2:c.7241C>T | NP_001009944.2:p.Thr2414Met | |
| XM_005255370.2:c.4196C>T | XP_005255427.1:p.Thr1399Met | |
| XM_011522525.1:c.7319C>T | XP_011520827.1:p.Thr2440Met | |
| XM_011522526.1:c.7319C>T | XP_011520828.1:p.Thr2440Met | |
| XM_011522527.1:c.7319C>T | XP_011520829.1:p.Thr2440Met | |
| XM_011522528.1:c.7295C>T | XP_011520830.1:p.Thr2432Met | |
| XM_011522529.1:c.7295C>T | XP_011520831.1:p.Thr2432Met | |
| XM_011522530.1:c.7265C>T | XP_011520832.1:p.Thr2422Met | |
| XM_011522531.1:c.7247C>T | XP_011520833.1:p.Thr2416Met | |
| XM_011522532.1:c.7193C>T | XP_011520834.1:p.Thr2398Met | |
| XM_011522533.1:c.7112C>T | XP_011520835.1:p.Thr2371Met | |
| XM_011522534.1:c.7055C>T | XP_011520836.1:p.Thr2352Met | |
| XM_011522535.1:c.5141C>T | XP_011520837.1:p.Thr1714Met | |
| XM_011522536.1:c.7319C>T | XP_011520838.1:p.Thr2440Met | |
| XM_011522537.1:c.4319C>T | XP_011520839.1:p.Thr1440Met | |
| XR_932867.1:n.7334C>T | ||
| XR_932868.1:n.7334C>T | ||
| XR_932869.1:n.7334C>T | ||
| XR_932870.1:n.7334C>T | ||
| XM_005255370.3:c.4196C>T | XP_005255427.1:p.Thr1399Met | |
| XM_011522528.3:c.7295C>T | XP_011520830.1:p.Thr2432Met | |
| XM_011522529.2:c.7295C>T | XP_011520831.1:p.Thr2432Met | |
| XM_011522537.2:c.4319C>T | XP_011520839.1:p.Thr1440Met | |
| XM_024450298.1:c.7361C>T | XP_024306066.1:p.Thr2454Met | |
| XM_024450299.1:c.7289C>T | XP_024306067.1:p.Thr2430Met | |
| XM_024450300.1:c.7151C>T | XP_024306068.1:p.Thr2384Met | |
| XM_024450301.1:c.5237C>T | XP_024306069.1:p.Thr1746Met | |
| NM_000296.4:c.7241C>T | NP_000287.4:p.Thr2414Met | |
| NM_001009944.3:c.7241C>T MANE Select | NP_001009944.3:p.Thr2414Met |