Linked Data
ClinVar Variation Id:
66112
ClinVar RCV Id:
RCV000056405
dbSNP Id:
rs587777054
PubMed:
PMID:23993195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351496T>A , CM000678.2:g.56351496T>A | GRCh38 |
| NC_000016.9:g.56385408T>A , CM000678.1:g.56385408T>A | GRCh37 |
| NC_000016.8:g.54942909T>A | NCBI36 |
| NG_042800.1:g.165158T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262493.12:c.836T>A MANE Select | ENSP00000262493.6:p.Ile279Asn | |
| ENST00000562316.6:c.503T>A | ENSP00000457238.2:p.Ile168Asn | |
| ENST00000564727.2:c.140T>A | ENSP00000454971.2:p.Ile47Asn | |
| ENST00000568375.2:c.116-3370T>A | ||
| ENST00000638185.1:n.1051T>A | ||
| ENST00000638210.1:n.1136T>A | ||
| ENST00000638705.1:c.836T>A | ENSP00000491223.1:p.Ile279Asn | |
| ENST00000638836.1:n.746T>A | ||
| ENST00000639055.1:n.1557T>A | ||
| ENST00000639251.1:n.737T>A | ||
| ENST00000639268.1:c.471T>A | ||
| ENST00000639341.1:c.361T>A | ||
| ENST00000639770.1:c.874T>A | ENSP00000491999.1:n.874T>A | |
| ENST00000640390.1:n.766T>A | ||
| ENST00000640469.1:c.200T>A | ENSP00000491875.1:p.Ile67Asn | |
| ENST00000640560.1:n.612T>A | ||
| ENST00000640893.1:c.*234T>A | ENSP00000492677.1:n.*234T>A | |
| ENST00000262493.10:c.836T>A | ENSP00000262493.6:p.Ile279Asn | |
| ENST00000564727.1:c.56T>A | ENSP00000454971.1:p.Ile19Asn | |
| ENST00000568375.1:n.116-3370T>A | ||
| NM_020988.2:c.836T>A | NP_066268.1:p.Ile279Asn | |
| XM_011523003.1:c.710T>A | XP_011521305.1:p.Ile237Asn | |
| XM_011523003.3:c.710T>A | XP_011521305.1:p.Ile237Asn | |
| NM_020988.3:c.836T>A MANE Select | NP_066268.1:p.Ile279Asn |