Linked Data
ClinVar Variation Id:
958063
ClinVar RCV Id:
RCV001231155
dbSNP Id:
rs761275918
gnomAD v2:
6-42689605-G-C
gnomAD v3:
6-42721867-G-C
gnomAD v4:
6-42721867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721867G>C , CM000668.2:g.42721867G>C | GRCh38 |
| NC_000006.11:g.42689605G>C , CM000668.1:g.42689605G>C | GRCh37 |
| NC_000006.10:g.42797583G>C | NCBI36 |
| NG_009176.1:g.5754C>G | |
| NG_009176.2:g.5754C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.468C>G MANE Select | ENSP00000230381.5:p.Ile156Met | |
| ENST00000230381.6:c.468C>G | ENSP00000230381.5:p.Ile156Met | |
| NM_000322.4:c.468C>G | NP_000313.2:p.Ile156Met | |
| XR_427834.2:n.1123C>G | ||
| XR_926295.1:n.1123C>G | ||
| XR_427834.4:n.1173C>G | ||
| XR_926295.3:n.1173C>G | ||
| NM_000322.5:c.468C>G MANE Select | NP_000313.2:p.Ile156Met |