Linked Data
ClinVar Variation Id:
56099
ClinVar RCV Id:
RCV000049508
dbSNP Id:
rs386833581
gnomAD v4:
9-6610314-C-G
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6610314C>G , CM000671.2:g.6610314C>G | GRCh38 |
| NC_000009.11:g.6610314C>G , CM000671.1:g.6610314C>G | GRCh37 |
| NC_000009.10:g.6600314C>G | NCBI36 |
| NG_016397.1:g.40379G>C , LRG_643:g.40379G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.513G>C MANE Select | ENSP00000370737.4:p.Gly171= | |
| ENST00000639020.1:c.108G>C | ENSP00000491392.1:p.Gly36= | |
| ENST00000639364.1:n.213G>C | ||
| ENST00000639840.1:c.219G>C | ENSP00000491161.1:p.Gly73= | |
| ENST00000639954.1:n.221G>C | ||
| ENST00000640592.1:n.396G>C | ||
| ENST00000321612.6:c.513G>C | ENSP00000370737.3:p.Gly171= | |
| NM_000170.2:c.513G>C , LRG_643t1:c.513G>C | NP_000161.2:p.Gly171= | |
| NM_000170.3:c.513G>C MANE Select | NP_000161.2:p.Gly171= |