Linked Data
dbSNP Id:
rs766817682
ExAC:
16:2159727 C / A
gnomAD v2:
16-2159727-C-A
gnomAD v3:
16-2109726-C-A
gnomAD v4:
16-2109726-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109726C>A , CM000678.2:g.2109726C>A | GRCh38 |
| NC_000016.9:g.2159727C>A , CM000678.1:g.2159727C>A | GRCh37 |
| NC_000016.8:g.2099728C>A | NCBI36 |
| NG_008617.1:g.31173G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.5441G>T MANE Select | ENSP00000262304.4:p.Gly1814Val | |
| ENST00000262304.8:c.5441G>T | ENSP00000262304.4:p.Gly1814Val | |
| ENST00000415938.7:n.310+2614G>T | ||
| ENST00000423118.5:c.5441G>T | ENSP00000399501.1:p.Gly1814Val | |
| ENST00000468674.5:n.431-376G>T | ||
| ENST00000483024.1:c.233+2090G>T | ||
| ENST00000483731.5:n.790+2614G>T | ||
| ENST00000487932.5:c.128G>T | ENSP00000457132.1:p.Gly43Val | |
| ENST00000488185.2:c.473-1368G>T | ||
| ENST00000565639.6:n.773+2614G>T | ||
| ENST00000568591.5:c.2226+2614G>T | ENSP00000457162.1:n.2226+2614G>T | |
| ENST00000569983.5:n.421+2614G>T | ||
| NM_000296.3:c.5441G>T | NP_000287.3:p.Gly1814Val | |
| NM_001009944.2:c.5441G>T | NP_001009944.2:p.Gly1814Val | |
| XM_005255370.2:c.2396G>T | XP_005255427.1:p.Gly799Val | |
| XM_011522525.1:c.5519G>T | XP_011520827.1:p.Gly1840Val | |
| XM_011522526.1:c.5519G>T | XP_011520828.1:p.Gly1840Val | |
| XM_011522527.1:c.5519G>T | XP_011520829.1:p.Gly1840Val | |
| XM_011522528.1:c.5495G>T | XP_011520830.1:p.Gly1832Val | |
| XM_011522529.1:c.5495G>T | XP_011520831.1:p.Gly1832Val | |
| XM_011522530.1:c.5465G>T | XP_011520832.1:p.Gly1822Val | |
| XM_011522531.1:c.5447G>T | XP_011520833.1:p.Gly1816Val | |
| XM_011522532.1:c.5393G>T | XP_011520834.1:p.Gly1798Val | |
| XM_011522533.1:c.5312G>T | XP_011520835.1:p.Gly1771Val | |
| XM_011522534.1:c.5255G>T | XP_011520836.1:p.Gly1752Val | |
| XM_011522535.1:c.3341G>T | XP_011520837.1:p.Gly1114Val | |
| XM_011522536.1:c.5519G>T | XP_011520838.1:p.Gly1840Val | |
| XM_011522537.1:c.2519G>T | XP_011520839.1:p.Gly840Val | |
| XR_932867.1:n.5534G>T | ||
| XR_932868.1:n.5534G>T | ||
| XR_932869.1:n.5534G>T | ||
| XR_932870.1:n.5534G>T | ||
| XM_005255370.3:c.2396G>T | XP_005255427.1:p.Gly799Val | |
| XM_011522528.3:c.5495G>T | XP_011520830.1:p.Gly1832Val | |
| XM_011522529.2:c.5495G>T | XP_011520831.1:p.Gly1832Val | |
| XM_011522537.2:c.2519G>T | XP_011520839.1:p.Gly840Val | |
| XM_024450298.1:c.5561G>T | XP_024306066.1:p.Gly1854Val | |
| XM_024450299.1:c.5489G>T | XP_024306067.1:p.Gly1830Val | |
| XM_024450300.1:c.5351G>T | XP_024306068.1:p.Gly1784Val | |
| XM_024450301.1:c.3437G>T | XP_024306069.1:p.Gly1146Val | |
| NM_000296.4:c.5441G>T | NP_000287.4:p.Gly1814Val | |
| NM_001009944.3:c.5441G>T MANE Select | NP_001009944.3:p.Gly1814Val |