Linked Data
ClinVar Variation Id:
39583
ClinVar RCV Id:
RCV000032783
dbSNP Id:
rs397514540
ExAC:
19:49468853 C / T
gnomAD v2:
19-49468853-C-T
gnomAD v3:
19-48965596-C-T
gnomAD v4:
19-48965596-C-T
PubMed:
PMID:19176363
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965596C>T , CM000681.2:g.48965596C>T | GRCh38 |
| NC_000019.9:g.49468853C>T , CM000681.1:g.49468853C>T | GRCh37 |
| NC_000019.8:g.54160665C>T | NCBI36 |
| NG_008152.1:g.5288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.89C>T MANE Select | ENSP00000366525.2:p.Thr30Ile | |
| ENST00000331825.10:c.89C>T | ENSP00000366525.2:p.Thr30Ile | |
| ENST00000622577.2:c.89C>T | ENSP00000484043.1:p.Thr30Ile | |
| NM_000146.3:c.89C>T | NP_000137.2:p.Thr30Ile | |
| XM_024451447.1:c.599C>T | XP_024307215.1:p.Thr200Ile | |
| NM_000146.4:c.89C>T MANE Select | NP_000137.2:p.Thr30Ile |