Linked Data
dbSNP Id:
rs1305794811
gnomAD v2:
16-2156625-G-A
gnomAD v3:
16-2106624-G-A
gnomAD v4:
16-2106624-G-A
COSMIC:
COSM6143658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106624G>A , CM000678.2:g.2106624G>A | GRCh38 |
| NC_000016.9:g.2156625G>A , CM000678.1:g.2156625G>A | GRCh37 |
| NC_000016.8:g.2096626G>A | NCBI36 |
| NG_008617.1:g.34275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7263C>T MANE Select | ENSP00000262304.4:p.Thr2421= | |
| ENST00000262304.8:c.7263C>T | ENSP00000262304.4:p.Thr2421= | |
| ENST00000415938.7:n.508C>T | ||
| ENST00000423118.5:c.7263C>T | ENSP00000399501.1:p.Thr2421= | |
| ENST00000483024.1:c.431C>T | ||
| ENST00000483558.5:n.322C>T | ||
| ENST00000483731.5:n.988C>T | ||
| ENST00000486339.6:n.1009C>T | ||
| ENST00000487932.5:c.1950C>T | ENSP00000457132.1:p.Thr650= | |
| ENST00000496574.6:n.1266C>T | ||
| ENST00000565639.6:n.971C>T | ||
| ENST00000568591.5:c.2424C>T | ENSP00000457162.1:n.2424C>T | |
| ENST00000569983.5:n.619C>T | ||
| NM_000296.3:c.7263C>T | NP_000287.3:p.Thr2421= | |
| NM_001009944.2:c.7263C>T | NP_001009944.2:p.Thr2421= | |
| XM_005255370.2:c.4218C>T | XP_005255427.1:p.Thr1406= | |
| XM_011522525.1:c.7341C>T | XP_011520827.1:p.Thr2447= | |
| XM_011522526.1:c.7341C>T | XP_011520828.1:p.Thr2447= | |
| XM_011522527.1:c.7341C>T | XP_011520829.1:p.Thr2447= | |
| XM_011522528.1:c.7317C>T | XP_011520830.1:p.Thr2439= | |
| XM_011522529.1:c.7317C>T | XP_011520831.1:p.Thr2439= | |
| XM_011522530.1:c.7287C>T | XP_011520832.1:p.Thr2429= | |
| XM_011522531.1:c.7269C>T | XP_011520833.1:p.Thr2423= | |
| XM_011522532.1:c.7215C>T | XP_011520834.1:p.Thr2405= | |
| XM_011522533.1:c.7134C>T | XP_011520835.1:p.Thr2378= | |
| XM_011522534.1:c.7077C>T | XP_011520836.1:p.Thr2359= | |
| XM_011522535.1:c.5163C>T | XP_011520837.1:p.Thr1721= | |
| XM_011522536.1:c.7341C>T | XP_011520838.1:p.Thr2447= | |
| XM_011522537.1:c.4341C>T | XP_011520839.1:p.Thr1447= | |
| XR_932867.1:n.7356C>T | ||
| XR_932868.1:n.7356C>T | ||
| XR_932869.1:n.7356C>T | ||
| XR_932870.1:n.7356C>T | ||
| XM_005255370.3:c.4218C>T | XP_005255427.1:p.Thr1406= | |
| XM_011522528.3:c.7317C>T | XP_011520830.1:p.Thr2439= | |
| XM_011522529.2:c.7317C>T | XP_011520831.1:p.Thr2439= | |
| XM_011522537.2:c.4341C>T | XP_011520839.1:p.Thr1447= | |
| XM_024450298.1:c.7383C>T | XP_024306066.1:p.Thr2461= | |
| XM_024450299.1:c.7311C>T | XP_024306067.1:p.Thr2437= | |
| XM_024450300.1:c.7173C>T | XP_024306068.1:p.Thr2391= | |
| XM_024450301.1:c.5259C>T | XP_024306069.1:p.Thr1753= | |
| NM_000296.4:c.7263C>T | NP_000287.4:p.Thr2421= | |
| NM_001009944.3:c.7263C>T MANE Select | NP_001009944.3:p.Thr2421= |