Linked Data
ClinVar Variation Id:
225985
dbSNP Id:
rs28399499
ExAC:
19:41518221 T / C
gnomAD v2:
19-41518221-T-C
gnomAD v3:
19-41012316-T-C
gnomAD v4:
19-41012316-T-C
PubMed:
PMID:16272958
PMID:16495778
PMID:18281305
PMID:19228205
PMID:19371316
PMID:19659438
PMID:19779319
PMID:20860463
PMID:20952418
PMID:21441248
PMID:22354160
PMID:22680342
PMID:22927450
PMID:22992668
PMID:23080225
PMID:23778320
PMID:24080498
PMID:24217698
PMID:24316028
PMID:24729586
PMID:25611810
PMID:26779253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012316T>C , CM000681.2:g.41012316T>C | GRCh38 |
| NC_000019.9:g.41518221T>C , CM000681.1:g.41518221T>C | GRCh37 |
| NC_000019.8:g.46210061T>C | NCBI36 |
| NG_007929.1:g.26018T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.983T>C MANE Select | ENSP00000324648.2:p.Ile328Thr | |
| ENST00000598834.2:c.1007T>C | ||
| ENST00000324071.8:c.983T>C | ENSP00000324648.2:p.Ile328Thr | |
| ENST00000593831.1:c.275T>C | ENSP00000470582.1:p.Ile92Thr | |
| ENST00000597612.1:n.478T>C | ||
| NM_000767.4:c.983T>C | NP_000758.1:p.Ile328Thr | |
| XM_005258569.3:c.983T>C | XP_005258626.1:p.Ile328Thr | |
| XM_006723050.2:c.983T>C | XP_006723113.1:p.Ile328Thr | |
| XM_011526546.1:c.983T>C | XP_011524848.1:p.Ile328Thr | |
| XM_011526547.1:c.983T>C | XP_011524849.1:p.Ile328Thr | |
| XM_011526548.1:c.503T>C | XP_011524850.1:p.Ile168Thr | |
| XM_011526549.1:c.392T>C | XP_011524851.1:p.Ile131Thr | |
| XM_011526550.1:c.383T>C | XP_011524852.1:p.Ile128Thr | |
| NM_000767.5:c.983T>C MANE Select | NP_000758.1:p.Ile328Thr |