Linked Data
ClinVar Variation Id:
225439
dbSNP Id:
rs55840049
ExAC:
16:2161117 G / A
gnomAD v2:
16-2161117-G-A
gnomAD v3:
16-2111116-G-A
gnomAD v4:
16-2111116-G-A
PubMed:
PMID:17574468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111116G>A , CM000678.2:g.2111116G>A | GRCh38 |
| NC_000016.9:g.2161117G>A , CM000678.1:g.2161117G>A | GRCh37 |
| NC_000016.8:g.2101118G>A | NCBI36 |
| NG_008617.1:g.29783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.4051C>T MANE Select | ENSP00000262304.4:p.Arg1351Trp | |
| ENST00000262304.8:c.4051C>T | ENSP00000262304.4:p.Arg1351Trp | |
| ENST00000415938.7:n.310+1224C>T | ||
| ENST00000423118.5:c.4051C>T | ENSP00000399501.1:p.Arg1351Trp | |
| ENST00000468674.5:n.430+1224C>T | ||
| ENST00000483024.1:c.233+700C>T | ||
| ENST00000483731.5:n.790+1224C>T | ||
| ENST00000488185.2:c.473-2758C>T | ||
| ENST00000565639.6:n.773+1224C>T | ||
| ENST00000568591.5:c.2226+1224C>T | ENSP00000457162.1:n.2226+1224C>T | |
| ENST00000569983.5:n.421+1224C>T | ||
| NM_000296.3:c.4051C>T | NP_000287.3:p.Arg1351Trp | |
| NM_001009944.2:c.4051C>T | NP_001009944.2:p.Arg1351Trp | |
| XM_005255370.2:c.1006C>T | XP_005255427.1:p.Arg336Trp | |
| XM_011522525.1:c.4129C>T | XP_011520827.1:p.Arg1377Trp | |
| XM_011522526.1:c.4129C>T | XP_011520828.1:p.Arg1377Trp | |
| XM_011522527.1:c.4129C>T | XP_011520829.1:p.Arg1377Trp | |
| XM_011522528.1:c.4105C>T | XP_011520830.1:p.Arg1369Trp | |
| XM_011522529.1:c.4105C>T | XP_011520831.1:p.Arg1369Trp | |
| XM_011522530.1:c.4075C>T | XP_011520832.1:p.Arg1359Trp | |
| XM_011522531.1:c.4057C>T | XP_011520833.1:p.Arg1353Trp | |
| XM_011522532.1:c.4003C>T | XP_011520834.1:p.Arg1335Trp | |
| XM_011522533.1:c.3922C>T | XP_011520835.1:p.Arg1308Trp | |
| XM_011522534.1:c.3865C>T | XP_011520836.1:p.Arg1289Trp | |
| XM_011522535.1:c.1951C>T | XP_011520837.1:p.Arg651Trp | |
| XM_011522536.1:c.4129C>T | XP_011520838.1:p.Arg1377Trp | |
| XM_011522537.1:c.1129C>T | XP_011520839.1:p.Arg377Trp | |
| XR_932867.1:n.4144C>T | ||
| XR_932868.1:n.4144C>T | ||
| XR_932869.1:n.4144C>T | ||
| XR_932870.1:n.4144C>T | ||
| XM_005255370.3:c.1006C>T | XP_005255427.1:p.Arg336Trp | |
| XM_011522528.3:c.4105C>T | XP_011520830.1:p.Arg1369Trp | |
| XM_011522529.2:c.4105C>T | XP_011520831.1:p.Arg1369Trp | |
| XM_011522537.2:c.1129C>T | XP_011520839.1:p.Arg377Trp | |
| XM_024450298.1:c.4171C>T | XP_024306066.1:p.Arg1391Trp | |
| XM_024450299.1:c.4099C>T | XP_024306067.1:p.Arg1367Trp | |
| XM_024450300.1:c.3961C>T | XP_024306068.1:p.Arg1321Trp | |
| XM_024450301.1:c.2047C>T | XP_024306069.1:p.Arg683Trp | |
| NM_000296.4:c.4051C>T | NP_000287.4:p.Arg1351Trp | |
| NM_001009944.3:c.4051C>T MANE Select | NP_001009944.3:p.Arg1351Trp |