Linked Data
ClinVar Variation Id:
2646022
ClinVar RCV Id:
RCV003417575
dbSNP Id:
rs1443461442
gnomAD v4:
16-2111549-C-T
MyVariant Identifiers:
chr16:g.2161550C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111549C>T , CM000678.2:g.2111549C>T | GRCh38 |
| NC_000016.9:g.2161550C>T , CM000678.1:g.2161550C>T | GRCh37 |
| NC_000016.8:g.2101551C>T | NCBI36 |
| NG_008617.1:g.29350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3618G>A MANE Select | ENSP00000262304.4:p.Val1206= | |
| ENST00000262304.8:c.3618G>A | ENSP00000262304.4:p.Val1206= | |
| ENST00000415938.7:n.310+791G>A | ||
| ENST00000423118.5:c.3618G>A | ENSP00000399501.1:p.Val1206= | |
| ENST00000468674.5:n.430+791G>A | ||
| ENST00000469241.2:n.568G>A | ||
| ENST00000483024.1:c.233+267G>A | ||
| ENST00000483731.5:n.790+791G>A | ||
| ENST00000488185.2:c.473-3191G>A | ||
| ENST00000565639.6:n.773+791G>A | ||
| ENST00000568591.5:c.2226+791G>A | ENSP00000457162.1:n.2226+791G>A | |
| ENST00000569983.5:n.421+791G>A | ||
| NM_000296.3:c.3618G>A | NP_000287.3:p.Val1206= | |
| NM_001009944.2:c.3618G>A | NP_001009944.2:p.Val1206= | |
| XM_005255370.2:c.573G>A | XP_005255427.1:p.Val191= | |
| XM_011522525.1:c.3696G>A | XP_011520827.1:p.Val1232= | |
| XM_011522526.1:c.3696G>A | XP_011520828.1:p.Val1232= | |
| XM_011522527.1:c.3696G>A | XP_011520829.1:p.Val1232= | |
| XM_011522528.1:c.3672G>A | XP_011520830.1:p.Val1224= | |
| XM_011522529.1:c.3672G>A | XP_011520831.1:p.Val1224= | |
| XM_011522530.1:c.3642G>A | XP_011520832.1:p.Val1214= | |
| XM_011522531.1:c.3624G>A | XP_011520833.1:p.Val1208= | |
| XM_011522532.1:c.3570G>A | XP_011520834.1:p.Val1190= | |
| XM_011522533.1:c.3489G>A | XP_011520835.1:p.Val1163= | |
| XM_011522534.1:c.3432G>A | XP_011520836.1:p.Val1144= | |
| XM_011522535.1:c.1518G>A | XP_011520837.1:p.Val506= | |
| XM_011522536.1:c.3696G>A | XP_011520838.1:p.Val1232= | |
| XM_011522537.1:c.696G>A | XP_011520839.1:p.Val232= | |
| XR_932867.1:n.3711G>A | ||
| XR_932868.1:n.3711G>A | ||
| XR_932869.1:n.3711G>A | ||
| XR_932870.1:n.3711G>A | ||
| XM_005255370.3:c.573G>A | XP_005255427.1:p.Val191= | |
| XM_011522528.3:c.3672G>A | XP_011520830.1:p.Val1224= | |
| XM_011522529.2:c.3672G>A | XP_011520831.1:p.Val1224= | |
| XM_011522537.2:c.696G>A | XP_011520839.1:p.Val232= | |
| XM_024450298.1:c.3738G>A | XP_024306066.1:p.Val1246= | |
| XM_024450299.1:c.3666G>A | XP_024306067.1:p.Val1222= | |
| XM_024450300.1:c.3528G>A | XP_024306068.1:p.Val1176= | |
| XM_024450301.1:c.1614G>A | XP_024306069.1:p.Val538= | |
| NM_000296.4:c.3618G>A | NP_000287.4:p.Val1206= | |
| NM_001009944.3:c.3618G>A MANE Select | NP_001009944.3:p.Val1206= |