Linked Data
ClinVar Variation Id:
56096
ClinVar RCV Id:
RCV000049505
dbSNP Id:
rs386833578
PubMed:
PMID:15192636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620205T>G , CM000671.2:g.6620205T>G | GRCh38 |
| NC_000009.11:g.6620205T>G , CM000671.1:g.6620205T>G | GRCh37 |
| NC_000009.10:g.6610205T>G | NCBI36 |
| NG_016397.1:g.30488A>C , LRG_643:g.30488A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.449A>C MANE Select | ENSP00000370737.4:p.Asn150Thr | |
| ENST00000639020.1:c.44A>C | ENSP00000491392.1:p.Asn15Thr | |
| ENST00000639364.1:n.149A>C | ||
| ENST00000639840.1:c.155A>C | ENSP00000491161.1:p.Asn52Thr | |
| ENST00000639954.1:n.179-9849A>C | ||
| ENST00000640592.1:n.332A>C | ||
| ENST00000321612.6:c.449A>C | ENSP00000370737.3:p.Asn150Thr | |
| NM_000170.2:c.449A>C , LRG_643t1:c.449A>C | NP_000161.2:p.Asn150Thr | |
| NM_000170.3:c.449A>C MANE Select | NP_000161.2:p.Asn150Thr |