Linked Data
ClinVar Variation Id:
6434
ClinVar RCV Id:
RCV000006804
dbSNP Id:
rs121908862
PubMed:
PMID:7528344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81092563T>A , CM000676.2:g.81092563T>A | GRCh38 |
| NC_000014.8:g.81558907T>A , CM000676.1:g.81558907T>A | GRCh37 |
| NC_000014.7:g.80628660T>A | NCBI36 |
| NG_009206.1:g.142039T>A , LRG_523:g.142039T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.500T>A MANE Select | ENSP00000298171.2:p.Ile167Asn | |
| ENST00000636454.1:n.418T>A | ||
| ENST00000298171.6:c.500T>A | ENSP00000298171.2:p.Ile167Asn | |
| ENST00000342443.10:c.500T>A | ENSP00000340113.6:p.Ile167Asn | |
| ENST00000541158.6:c.500T>A | ENSP00000441235.2:p.Ile167Asn | |
| ENST00000554263.5:c.500T>A | ENSP00000451202.1:p.Ile167Asn | |
| ENST00000554435.1:c.500T>A | ENSP00000450549.1:p.Ile167Asn | |
| NM_000369.2:c.500T>A , LRG_523t1:c.500T>A | NP_000360.2:p.Ile167Asn | |
| NM_001018036.2:c.500T>A | NP_001018046.1:p.Ile167Asn | |
| NM_001142626.2:c.500T>A | NP_001136098.1:p.Ile167Asn | |
| XM_005268037.3:c.500T>A | XP_005268094.1:p.Ile167Asn | |
| XM_005268039.1:c.500T>A | XP_005268096.1:p.Ile167Asn | |
| XM_006720245.1:c.500T>A | XP_006720308.1:p.Ile167Asn | |
| XM_011537119.1:c.221T>A | XP_011535421.1:p.Ile74Asn | |
| XR_245790.3:n.2480+1019A>T | ||
| XR_944075.1:n.1260-156A>T | ||
| XR_944076.1:n.1255+1019A>T | ||
| XR_944077.1:n.1259+1019A>T | ||
| XR_944078.1:n.1259+1019A>T | ||
| XM_005268037.4:c.500T>A | XP_005268094.1:p.Ile167Asn | |
| XM_011537119.2:c.221T>A | XP_011535421.1:p.Ile74Asn | |
| XR_001751018.2:n.700-156A>T | ||
| XR_001751019.2:n.699+1019A>T | ||
| XR_001751020.2:n.699+1019A>T | ||
| XR_001751021.1:n.3148-156A>T | ||
| XR_001751022.1:n.3147+1019A>T | ||
| XR_001751023.1:n.3280+1019A>T | ||
| XR_001751024.2:n.700-156A>T | ||
| XR_944075.3:n.1324-156A>T | ||
| NM_000369.4:c.500T>A | NP_000360.2:p.Ile167Asn | |
| NM_001018036.3:c.500T>A | NP_001018046.1:p.Ile167Asn | |
| NM_001142626.3:c.500T>A | NP_001136098.1:p.Ile167Asn | |
| NM_000369.5:c.500T>A MANE Select | NP_000360.2:p.Ile167Asn |