Linked Data
ClinVar Variation Id:
161525
ClinVar RCV Id:
RCV000149060
dbSNP Id:
rs193920747
gnomAD v2:
13-29278192-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28704055C>T , CM000675.2:g.28704055C>T | GRCh38 |
| NC_000013.10:g.29278192C>T , CM000675.1:g.29278192C>T | GRCh37 |
| NC_000013.9:g.28176192C>T | NCBI36 |
| NG_053189.1:g.19959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266943.11:c.1189G>A MANE Select | ENSP00000266943.7:p.Val397Ile | |
| ENST00000266943.10:c.1189G>A | ENSP00000266943.6:p.Val397Ile | |
| ENST00000380814.4:c.1189G>A | ENSP00000370192.4:p.Val397Ile | |
| ENST00000475385.1:n.503G>A | ||
| NM_001135919.1:c.1189G>A | NP_001129391.1:p.Val397Ile | |
| NM_181785.3:c.1189G>A | NP_861450.1:p.Val397Ile | |
| XM_005266361.1:c.1189G>A | XP_005266418.1:p.Val397Ile | |
| NM_001347960.1:c.1189G>A | NP_001334889.1:p.Val397Ile | |
| XM_005266361.2:c.1189G>A | XP_005266418.1:p.Val397Ile | |
| NM_001135919.2:c.1189G>A | NP_001129391.1:p.Val397Ile | |
| NM_181785.4:c.1189G>A MANE Select | NP_861450.1:p.Val397Ile | |
| NM_001347960.2:c.1189G>A | NP_001334889.1:p.Val397Ile |