Linked Data
dbSNP Id:
rs758166539
ExAC:
16:2161634 G / A
gnomAD v2:
16-2161634-G-A
gnomAD v4:
16-2111633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111633G>A , CM000678.2:g.2111633G>A | GRCh38 |
| NC_000016.9:g.2161634G>A , CM000678.1:g.2161634G>A | GRCh37 |
| NC_000016.8:g.2101635G>A | NCBI36 |
| NG_008617.1:g.29266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3534C>T MANE Select | ENSP00000262304.4:p.Asn1178= | |
| ENST00000262304.8:c.3534C>T | ENSP00000262304.4:p.Asn1178= | |
| ENST00000415938.7:n.310+707C>T | ||
| ENST00000423118.5:c.3534C>T | ENSP00000399501.1:p.Asn1178= | |
| ENST00000468674.5:n.430+707C>T | ||
| ENST00000469241.2:n.484C>T | ||
| ENST00000483024.1:c.233+183C>T | ||
| ENST00000483731.5:n.790+707C>T | ||
| ENST00000488185.2:c.473-3275C>T | ||
| ENST00000565639.6:n.773+707C>T | ||
| ENST00000568591.5:c.2226+707C>T | ENSP00000457162.1:n.2226+707C>T | |
| ENST00000569983.5:n.421+707C>T | ||
| NM_000296.3:c.3534C>T | NP_000287.3:p.Asn1178= | |
| NM_001009944.2:c.3534C>T | NP_001009944.2:p.Asn1178= | |
| XM_005255370.2:c.489C>T | XP_005255427.1:p.Asn163= | |
| XM_011522525.1:c.3612C>T | XP_011520827.1:p.Asn1204= | |
| XM_011522526.1:c.3612C>T | XP_011520828.1:p.Asn1204= | |
| XM_011522527.1:c.3612C>T | XP_011520829.1:p.Asn1204= | |
| XM_011522528.1:c.3588C>T | XP_011520830.1:p.Asn1196= | |
| XM_011522529.1:c.3588C>T | XP_011520831.1:p.Asn1196= | |
| XM_011522530.1:c.3558C>T | XP_011520832.1:p.Asn1186= | |
| XM_011522531.1:c.3540C>T | XP_011520833.1:p.Asn1180= | |
| XM_011522532.1:c.3486C>T | XP_011520834.1:p.Asn1162= | |
| XM_011522533.1:c.3405C>T | XP_011520835.1:p.Asn1135= | |
| XM_011522534.1:c.3348C>T | XP_011520836.1:p.Asn1116= | |
| XM_011522535.1:c.1434C>T | XP_011520837.1:p.Asn478= | |
| XM_011522536.1:c.3612C>T | XP_011520838.1:p.Asn1204= | |
| XM_011522537.1:c.612C>T | XP_011520839.1:p.Asn204= | |
| XR_932867.1:n.3627C>T | ||
| XR_932868.1:n.3627C>T | ||
| XR_932869.1:n.3627C>T | ||
| XR_932870.1:n.3627C>T | ||
| XM_005255370.3:c.489C>T | XP_005255427.1:p.Asn163= | |
| XM_011522528.3:c.3588C>T | XP_011520830.1:p.Asn1196= | |
| XM_011522529.2:c.3588C>T | XP_011520831.1:p.Asn1196= | |
| XM_011522537.2:c.612C>T | XP_011520839.1:p.Asn204= | |
| XM_024450298.1:c.3654C>T | XP_024306066.1:p.Asn1218= | |
| XM_024450299.1:c.3582C>T | XP_024306067.1:p.Asn1194= | |
| XM_024450300.1:c.3444C>T | XP_024306068.1:p.Asn1148= | |
| XM_024450301.1:c.1530C>T | XP_024306069.1:p.Asn510= | |
| NM_000296.4:c.3534C>T | NP_000287.4:p.Asn1178= | |
| NM_001009944.3:c.3534C>T MANE Select | NP_001009944.3:p.Asn1178= |