Linked Data
ClinVar Variation Id:
2769665
ClinVar RCV Id:
RCV003507901
dbSNP Id:
rs1417623185
gnomAD v2:
11-118899056-G-C
gnomAD v4:
11-119028346-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119028346G>C , CM000673.2:g.119028346G>C | GRCh38 |
| NC_000011.9:g.118899056G>C , CM000673.1:g.118899056G>C | GRCh37 |
| NC_000011.8:g.118404266G>C | NCBI36 |
| NG_013331.1:g.7561C>G , LRG_187:g.7561C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.458C>G | ||
| ENST00000697845.1:n.382C>G | ||
| ENST00000697846.1:n.458C>G | ||
| ENST00000697847.1:n.458C>G | ||
| ENST00000697848.1:n.458C>G | ||
| ENST00000697849.1:n.1497C>G | ||
| ENST00000697850.1:n.458C>G | ||
| ENST00000697851.1:n.1497C>G | ||
| ENST00000638186.1:n.532C>G | ||
| ENST00000638360.1:n.466C>G | ||
| ENST00000638925.1:n.465C>G | ||
| ENST00000650539.1:n.634C>G | ||
| ENST00000330775.9:c.229C>G | ENSP00000476242.2:p.Arg77Gly | |
| ENST00000357590.9:c.229C>G | ENSP00000476176.2:p.Arg77Gly | |
| ENST00000524428.5:n.229C>G | ||
| ENST00000525039.5:n.652C>G | ||
| ENST00000525102.5:n.986C>G | ||
| ENST00000525372.5:n.229C>G | ||
| ENST00000525787.1:n.524C>G | ||
| ENST00000526275.5:n.689C>G | ||
| ENST00000526626.6:n.344-474C>G | ||
| ENST00000527992.5:n.456C>G | ||
| ENST00000529510.5:n.247C>G | ||
| ENST00000530407.5:n.378C>G | ||
| ENST00000532085.1:n.2518C>G | ||
| ENST00000532888.6:n.524C>G | ||
| ENST00000534384.1:n.449C>G | ||
| ENST00000538950.5:c.10C>G | ENSP00000475991.2:p.Arg4Gly | |
| ENST00000545985.5:c.229C>G | ENSP00000475241.2:p.Arg77Gly | |
| NM_001164277.1:c.229C>G , LRG_187t1:c.229C>G | NP_001157749.1:p.Arg77Gly | |
| NM_001164278.1:c.229C>G | NP_001157750.1:p.Arg77Gly | |
| NM_001164279.1:c.10C>G | NP_001157751.1:p.Arg4Gly | |
| NM_001164280.1:c.229C>G | NP_001157752.1:p.Arg77Gly | |
| NM_001467.5:c.229C>G | NP_001458.1:p.Arg77Gly | |
| NM_001164278.2:c.229C>G | NP_001157750.1:p.Arg77Gly | |
| NM_001164279.2:c.10C>G | NP_001157751.1:p.Arg4Gly | |
| NM_001164280.2:c.229C>G | NP_001157752.1:p.Arg77Gly | |
| NM_001467.6:c.229C>G | NP_001458.1:p.Arg77Gly | |
| NM_001164277.2:c.229C>G MANE Select | NP_001157749.1:p.Arg77Gly |