Linked Data
dbSNP Id:
rs778522302
ExAC:
16:2161545 A / G
gnomAD v2:
16-2161545-A-G
gnomAD v4:
16-2111544-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111544A>G , CM000678.2:g.2111544A>G | GRCh38 |
| NC_000016.9:g.2161545A>G , CM000678.1:g.2161545A>G | GRCh37 |
| NC_000016.8:g.2101546A>G | NCBI36 |
| NG_008617.1:g.29355T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3623T>C MANE Select | ENSP00000262304.4:p.Val1208Ala | |
| ENST00000262304.8:c.3623T>C | ENSP00000262304.4:p.Val1208Ala | |
| ENST00000415938.7:n.310+796T>C | ||
| ENST00000423118.5:c.3623T>C | ENSP00000399501.1:p.Val1208Ala | |
| ENST00000468674.5:n.430+796T>C | ||
| ENST00000469241.2:n.573T>C | ||
| ENST00000483024.1:c.233+272T>C | ||
| ENST00000483731.5:n.790+796T>C | ||
| ENST00000488185.2:c.473-3186T>C | ||
| ENST00000565639.6:n.773+796T>C | ||
| ENST00000568591.5:c.2226+796T>C | ENSP00000457162.1:n.2226+796T>C | |
| ENST00000569983.5:n.421+796T>C | ||
| NM_000296.3:c.3623T>C | NP_000287.3:p.Val1208Ala | |
| NM_001009944.2:c.3623T>C | NP_001009944.2:p.Val1208Ala | |
| XM_005255370.2:c.578T>C | XP_005255427.1:p.Val193Ala | |
| XM_011522525.1:c.3701T>C | XP_011520827.1:p.Val1234Ala | |
| XM_011522526.1:c.3701T>C | XP_011520828.1:p.Val1234Ala | |
| XM_011522527.1:c.3701T>C | XP_011520829.1:p.Val1234Ala | |
| XM_011522528.1:c.3677T>C | XP_011520830.1:p.Val1226Ala | |
| XM_011522529.1:c.3677T>C | XP_011520831.1:p.Val1226Ala | |
| XM_011522530.1:c.3647T>C | XP_011520832.1:p.Val1216Ala | |
| XM_011522531.1:c.3629T>C | XP_011520833.1:p.Val1210Ala | |
| XM_011522532.1:c.3575T>C | XP_011520834.1:p.Val1192Ala | |
| XM_011522533.1:c.3494T>C | XP_011520835.1:p.Val1165Ala | |
| XM_011522534.1:c.3437T>C | XP_011520836.1:p.Val1146Ala | |
| XM_011522535.1:c.1523T>C | XP_011520837.1:p.Val508Ala | |
| XM_011522536.1:c.3701T>C | XP_011520838.1:p.Val1234Ala | |
| XM_011522537.1:c.701T>C | XP_011520839.1:p.Val234Ala | |
| XR_932867.1:n.3716T>C | ||
| XR_932868.1:n.3716T>C | ||
| XR_932869.1:n.3716T>C | ||
| XR_932870.1:n.3716T>C | ||
| XM_005255370.3:c.578T>C | XP_005255427.1:p.Val193Ala | |
| XM_011522528.3:c.3677T>C | XP_011520830.1:p.Val1226Ala | |
| XM_011522529.2:c.3677T>C | XP_011520831.1:p.Val1226Ala | |
| XM_011522537.2:c.701T>C | XP_011520839.1:p.Val234Ala | |
| XM_024450298.1:c.3743T>C | XP_024306066.1:p.Val1248Ala | |
| XM_024450299.1:c.3671T>C | XP_024306067.1:p.Val1224Ala | |
| XM_024450300.1:c.3533T>C | XP_024306068.1:p.Val1178Ala | |
| XM_024450301.1:c.1619T>C | XP_024306069.1:p.Val540Ala | |
| NM_000296.4:c.3623T>C | NP_000287.4:p.Val1208Ala | |
| NM_001009944.3:c.3623T>C MANE Select | NP_001009944.3:p.Val1208Ala |