Linked Data
ClinVar Variation Id:
446213
ClinVar RCV Id:
RCV000515467
dbSNP Id:
rs1553217946
PubMed:
PMID:22493294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238579C>T , CM000663.2:g.155238579C>T | GRCh38 |
| NC_000001.10:g.155208370C>T , CM000663.1:g.155208370C>T | GRCh37 |
| NC_000001.9:g.153474994C>T | NCBI36 |
| NG_009783.1:g.11119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.526G>A MANE Select | ENSP00000357357.3:p.Asp176Asn | |
| ENST00000327247.9:c.526G>A | ENSP00000314508.5:p.Asp176Asn | |
| ENST00000368373.7:c.526G>A | ENSP00000357357.3:p.Asp176Asn | |
| ENST00000427500.7:c.379G>A | ENSP00000402577.2:p.Asp127Asn | |
| ENST00000428024.3:c.265G>A | ENSP00000397986.2:p.Asp89Asn | |
| ENST00000460156.1:n.313G>A | ||
| ENST00000473570.5:n.847G>A | ||
| ENST00000484489.5:n.339+1394G>A | ||
| ENST00000491081.5:n.131G>A | ||
| ENST00000493842.5:n.864G>A | ||
| ENST00000497670.5:n.149G>A | ||
| NM_000157.3:c.526G>A | NP_000148.2:p.Asp176Asn | |
| NM_001005741.2:c.526G>A | NP_001005741.1:p.Asp176Asn | |
| NM_001005742.2:c.526G>A | NP_001005742.1:p.Asp176Asn | |
| NM_001171811.1:c.265G>A | NP_001165282.1:p.Asp89Asn | |
| NM_001171812.1:c.379G>A | NP_001165283.1:p.Asp127Asn | |
| XM_006711270.1:c.526G>A | XP_006711333.1:p.Asp176Asn | |
| XM_011509407.1:c.526G>A | XP_011507709.1:p.Asp176Asn | |
| NM_000157.4:c.526G>A MANE Select | NP_000148.2:p.Asp176Asn | |
| NM_001005741.3:c.526G>A | NP_001005741.1:p.Asp176Asn | |
| NM_001005742.3:c.526G>A | NP_001005742.1:p.Asp176Asn | |
| NM_001171811.2:c.265G>A | NP_001165282.1:p.Asp89Asn | |
| NM_001171812.2:c.379G>A | NP_001165283.1:p.Asp127Asn |