Linked Data
ClinVar Variation Id:
8205
dbSNP Id:
rs199476099
ExAC:
16:2168022 C / A
gnomAD v2:
16-2168022-C-A
gnomAD v3:
16-2118021-C-A
gnomAD v4:
16-2118021-C-A
PubMed:
PMID:10364515
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2118021C>A , CM000678.2:g.2118021C>A | GRCh38 |
| NC_000016.9:g.2168022C>A , CM000678.1:g.2168022C>A | GRCh37 |
| NC_000016.8:g.2108023C>A | NCBI36 |
| NG_008617.1:g.22878G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.971G>T MANE Select | ENSP00000262304.4:p.Arg324Leu | |
| ENST00000262304.8:c.971G>T | ENSP00000262304.4:p.Arg324Leu | |
| ENST00000423118.5:c.971G>T | ENSP00000399501.1:p.Arg324Leu | |
| ENST00000488185.2:c.58G>T | ||
| ENST00000570150.1:n.104G>T | ||
| NM_000296.3:c.971G>T | NP_000287.3:p.Arg324Leu | |
| NM_001009944.2:c.971G>T | NP_001009944.2:p.Arg324Leu | |
| XM_011522525.1:c.1025G>T | XP_011520827.1:p.Arg342Leu | |
| XM_011522526.1:c.1025G>T | XP_011520828.1:p.Arg342Leu | |
| XM_011522527.1:c.1025G>T | XP_011520829.1:p.Arg342Leu | |
| XM_011522528.1:c.1025G>T | XP_011520830.1:p.Arg342Leu | |
| XM_011522529.1:c.1025G>T | XP_011520831.1:p.Arg342Leu | |
| XM_011522530.1:c.971G>T | XP_011520832.1:p.Arg324Leu | |
| XM_011522531.1:c.953G>T | XP_011520833.1:p.Arg318Leu | |
| XM_011522532.1:c.899G>T | XP_011520834.1:p.Arg300Leu | |
| XM_011522533.1:c.818G>T | XP_011520835.1:p.Arg273Leu | |
| XM_011522534.1:c.761G>T | XP_011520836.1:p.Arg254Leu | |
| XM_011522536.1:c.1025G>T | XP_011520838.1:p.Arg342Leu | |
| XR_932867.1:n.1040G>T | ||
| XR_932868.1:n.1040G>T | ||
| XR_932869.1:n.1040G>T | ||
| XR_932870.1:n.1040G>T | ||
| XM_011522528.3:c.1025G>T | XP_011520830.1:p.Arg342Leu | |
| XM_011522529.2:c.1025G>T | XP_011520831.1:p.Arg342Leu | |
| XM_024450298.1:c.971G>T | XP_024306066.1:p.Arg324Leu | |
| XM_024450299.1:c.899G>T | XP_024306067.1:p.Arg300Leu | |
| XM_024450300.1:c.761G>T | XP_024306068.1:p.Arg254Leu | |
| NM_000296.4:c.971G>T | NP_000287.4:p.Arg324Leu | |
| NM_001009944.3:c.971G>T MANE Select | NP_001009944.3:p.Arg324Leu |