Linked Data
ClinVar Variation Id:
8777
ClinVar RCV Id:
RCV002399315
dbSNP Id:
rs104894204
gnomAD v4:
11-19188245-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188245A>C , CM000673.2:g.19188245A>C | GRCh38 |
| NC_000011.9:g.19209792A>C , CM000673.1:g.19209792A>C | GRCh37 |
| NC_000011.8:g.19166368A>C | NCBI36 |
| NG_011932.2:g.27329T>G , LRG_440:g.27329T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265968.9:c.172T>G MANE Select | ENSP00000265968.3:p.Cys58Gly | |
| ENST00000533783.2:c.172T>G | ENSP00000431813.1:p.Cys58Gly | |
| ENST00000647990.1:c.172T>G | ENSP00000496798.1:p.Cys58Gly | |
| ENST00000648719.1:c.113-3200T>G | ENSP00000497633.1:n.113-3200T>G | |
| ENST00000649235.1:c.172T>G | ENSP00000497388.1:p.Cys58Gly | |
| ENST00000649842.1:c.113-1897T>G | ENSP00000497531.1:n.113-1897T>G | |
| ENST00000265968.7:c.172T>G | ENSP00000265968.3:p.Cys58Gly | |
| ENST00000533783.1:c.172T>G | ENSP00000431813.1:p.Cys58Gly | |
| NM_003476.4:c.172T>G | NP_003467.1:p.Cys58Gly | |
| XM_024448698.1:c.113-1897T>G | XP_024304466.1:n.113-1897T>G | |
| NM_001369404.1:c.113-1897T>G | NP_001356333.1:n.113-1897T>G | |
| NM_003476.5:c.172T>G MANE Select | NP_003467.1:p.Cys58Gly |