Linked Data
ClinVar Variation Id:
88868
ClinVar RCV Id:
RCV000074457
dbSNP Id:
rs398122367
PubMed:
PMID:23956177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.33500443A>T , CM000670.2:g.33500443A>T | GRCh38 |
| NC_000008.10:g.33357961A>T , CM000670.1:g.33357961A>T | GRCh37 |
| NC_000008.9:g.33477503A>T | NCBI36 |
| NG_033257.1:g.17743T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360128.11:c.*1814A>T (MAK16) MANE Select | ENSP00000353246.5:n.*1814A>T | |
| ENST00000431156.7:c.1307T>A (TTI2) MANE Select | ENSP00000411169.3:p.Ile436Asn | |
| ENST00000360128.10:c.*1814A>T (MAK16) | ENSP00000353246.5:n.*1814A>T | |
| ENST00000360742.9:c.1307T>A (TTI2) | ENSP00000353971.5:p.Ile436Asn | |
| ENST00000431156.6:c.1307T>A (TTI2) | ENSP00000411169.2:p.Ile436Asn | |
| ENST00000519356.1:n.513T>A (TTI2) | ||
| ENST00000520636.5:c.1214T>A (TTI2) | ENSP00000428401.1:p.Ile405Asn | |
| ENST00000613904.1:c.1307T>A (TTI2) | ENSP00000478396.1:p.Ile436Asn | |
| NM_001102401.2:c.1307T>A (TTI2) | NP_001095871.1:p.Ile436Asn | |
| NM_001265581.1:c.1307T>A (TTI2) | NP_001252510.1:p.Ile436Asn | |
| NM_025115.3:c.1307T>A (TTI2) | NP_079391.2:p.Ile436Asn | |
| NM_032509.3:c.*1814A>T (MAK16) | NP_115898.2:n.*1814A>T | |
| XM_011544665.1:c.1214T>A (TTI2) | XP_011542967.1:p.Ile405Asn | |
| NM_001330505.1:c.1214T>A (TTI2) | NP_001317434.1:p.Ile405Asn | |
| NM_032509.4:c.*1814A>T (MAK16) MANE Select | NP_115898.2:n.*1814A>T | |
| NM_001102401.4:c.1307T>A (TTI2) MANE Select | NP_001095871.1:p.Ile436Asn | |
| NM_001265581.2:c.1307T>A (TTI2) | NP_001252510.1:p.Ile436Asn | |
| NM_001330505.3:c.1214T>A (TTI2) | NP_001317434.1:p.Ile405Asn | |
| NM_025115.5:c.1307T>A (TTI2) | NP_079391.2:p.Ile436Asn |