Linked Data
dbSNP Id:
rs750649272
ExAC:
16:2156629 G / C
gnomAD v2:
16-2156629-G-C
gnomAD v4:
16-2106628-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106628G>C , CM000678.2:g.2106628G>C | GRCh38 |
| NC_000016.9:g.2156629G>C , CM000678.1:g.2156629G>C | GRCh37 |
| NC_000016.8:g.2096630G>C | NCBI36 |
| NG_008617.1:g.34271C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7259C>G MANE Select | ENSP00000262304.4:p.Thr2420Ser | |
| ENST00000262304.8:c.7259C>G | ENSP00000262304.4:p.Thr2420Ser | |
| ENST00000415938.7:n.504C>G | ||
| ENST00000423118.5:c.7259C>G | ENSP00000399501.1:p.Thr2420Ser | |
| ENST00000483024.1:c.427C>G | ||
| ENST00000483558.5:n.318C>G | ||
| ENST00000483731.5:n.984C>G | ||
| ENST00000486339.6:n.1005C>G | ||
| ENST00000487932.5:c.1946C>G | ENSP00000457132.1:p.Thr649Ser | |
| ENST00000496574.6:n.1262C>G | ||
| ENST00000565639.6:n.967C>G | ||
| ENST00000568591.5:c.2420C>G | ENSP00000457162.1:n.2420C>G | |
| ENST00000569983.5:n.615C>G | ||
| NM_000296.3:c.7259C>G | NP_000287.3:p.Thr2420Ser | |
| NM_001009944.2:c.7259C>G | NP_001009944.2:p.Thr2420Ser | |
| XM_005255370.2:c.4214C>G | XP_005255427.1:p.Thr1405Ser | |
| XM_011522525.1:c.7337C>G | XP_011520827.1:p.Thr2446Ser | |
| XM_011522526.1:c.7337C>G | XP_011520828.1:p.Thr2446Ser | |
| XM_011522527.1:c.7337C>G | XP_011520829.1:p.Thr2446Ser | |
| XM_011522528.1:c.7313C>G | XP_011520830.1:p.Thr2438Ser | |
| XM_011522529.1:c.7313C>G | XP_011520831.1:p.Thr2438Ser | |
| XM_011522530.1:c.7283C>G | XP_011520832.1:p.Thr2428Ser | |
| XM_011522531.1:c.7265C>G | XP_011520833.1:p.Thr2422Ser | |
| XM_011522532.1:c.7211C>G | XP_011520834.1:p.Thr2404Ser | |
| XM_011522533.1:c.7130C>G | XP_011520835.1:p.Thr2377Ser | |
| XM_011522534.1:c.7073C>G | XP_011520836.1:p.Thr2358Ser | |
| XM_011522535.1:c.5159C>G | XP_011520837.1:p.Thr1720Ser | |
| XM_011522536.1:c.7337C>G | XP_011520838.1:p.Thr2446Ser | |
| XM_011522537.1:c.4337C>G | XP_011520839.1:p.Thr1446Ser | |
| XR_932867.1:n.7352C>G | ||
| XR_932868.1:n.7352C>G | ||
| XR_932869.1:n.7352C>G | ||
| XR_932870.1:n.7352C>G | ||
| XM_005255370.3:c.4214C>G | XP_005255427.1:p.Thr1405Ser | |
| XM_011522528.3:c.7313C>G | XP_011520830.1:p.Thr2438Ser | |
| XM_011522529.2:c.7313C>G | XP_011520831.1:p.Thr2438Ser | |
| XM_011522537.2:c.4337C>G | XP_011520839.1:p.Thr1446Ser | |
| XM_024450298.1:c.7379C>G | XP_024306066.1:p.Thr2460Ser | |
| XM_024450299.1:c.7307C>G | XP_024306067.1:p.Thr2436Ser | |
| XM_024450300.1:c.7169C>G | XP_024306068.1:p.Thr2390Ser | |
| XM_024450301.1:c.5255C>G | XP_024306069.1:p.Thr1752Ser | |
| NM_000296.4:c.7259C>G | NP_000287.4:p.Thr2420Ser | |
| NM_001009944.3:c.7259C>G MANE Select | NP_001009944.3:p.Thr2420Ser |