Linked Data
ClinVar Variation Id:
447988
dbSNP Id:
rs746910149
ExAC:
16:2159715 G / A
gnomAD v2:
16-2159715-G-A
gnomAD v3:
16-2109714-G-A
gnomAD v4:
16-2109714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109714G>A , CM000678.2:g.2109714G>A | GRCh38 |
| NC_000016.9:g.2159715G>A , CM000678.1:g.2159715G>A | GRCh37 |
| NC_000016.8:g.2099716G>A | NCBI36 |
| NG_008617.1:g.31185C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.5453C>T MANE Select | ENSP00000262304.4:p.Ala1818Val | |
| ENST00000262304.8:c.5453C>T | ENSP00000262304.4:p.Ala1818Val | |
| ENST00000415938.7:n.310+2626C>T | ||
| ENST00000423118.5:c.5453C>T | ENSP00000399501.1:p.Ala1818Val | |
| ENST00000468674.5:n.431-364C>T | ||
| ENST00000483024.1:c.233+2102C>T | ||
| ENST00000483731.5:n.790+2626C>T | ||
| ENST00000487932.5:c.140C>T | ENSP00000457132.1:p.Ala47Val | |
| ENST00000488185.2:c.473-1356C>T | ||
| ENST00000565639.6:n.773+2626C>T | ||
| ENST00000568591.5:c.2226+2626C>T | ENSP00000457162.1:n.2226+2626C>T | |
| ENST00000569983.5:n.421+2626C>T | ||
| NM_000296.3:c.5453C>T | NP_000287.3:p.Ala1818Val | |
| NM_001009944.2:c.5453C>T | NP_001009944.2:p.Ala1818Val | |
| XM_005255370.2:c.2408C>T | XP_005255427.1:p.Ala803Val | |
| XM_011522525.1:c.5531C>T | XP_011520827.1:p.Ala1844Val | |
| XM_011522526.1:c.5531C>T | XP_011520828.1:p.Ala1844Val | |
| XM_011522527.1:c.5531C>T | XP_011520829.1:p.Ala1844Val | |
| XM_011522528.1:c.5507C>T | XP_011520830.1:p.Ala1836Val | |
| XM_011522529.1:c.5507C>T | XP_011520831.1:p.Ala1836Val | |
| XM_011522530.1:c.5477C>T | XP_011520832.1:p.Ala1826Val | |
| XM_011522531.1:c.5459C>T | XP_011520833.1:p.Ala1820Val | |
| XM_011522532.1:c.5405C>T | XP_011520834.1:p.Ala1802Val | |
| XM_011522533.1:c.5324C>T | XP_011520835.1:p.Ala1775Val | |
| XM_011522534.1:c.5267C>T | XP_011520836.1:p.Ala1756Val | |
| XM_011522535.1:c.3353C>T | XP_011520837.1:p.Ala1118Val | |
| XM_011522536.1:c.5531C>T | XP_011520838.1:p.Ala1844Val | |
| XM_011522537.1:c.2531C>T | XP_011520839.1:p.Ala844Val | |
| XR_932867.1:n.5546C>T | ||
| XR_932868.1:n.5546C>T | ||
| XR_932869.1:n.5546C>T | ||
| XR_932870.1:n.5546C>T | ||
| XM_005255370.3:c.2408C>T | XP_005255427.1:p.Ala803Val | |
| XM_011522528.3:c.5507C>T | XP_011520830.1:p.Ala1836Val | |
| XM_011522529.2:c.5507C>T | XP_011520831.1:p.Ala1836Val | |
| XM_011522537.2:c.2531C>T | XP_011520839.1:p.Ala844Val | |
| XM_024450298.1:c.5573C>T | XP_024306066.1:p.Ala1858Val | |
| XM_024450299.1:c.5501C>T | XP_024306067.1:p.Ala1834Val | |
| XM_024450300.1:c.5363C>T | XP_024306068.1:p.Ala1788Val | |
| XM_024450301.1:c.3449C>T | XP_024306069.1:p.Ala1150Val | |
| NM_000296.4:c.5453C>T | NP_000287.4:p.Ala1818Val | |
| NM_001009944.3:c.5453C>T MANE Select | NP_001009944.3:p.Ala1818Val |