Linked Data
ClinVar Variation Id:
414282
dbSNP Id:
rs201503021
ExAC:
22:19883021 C / G
gnomAD v2:
22-19883021-C-G
gnomAD v3:
22-19895498-C-G
gnomAD v4:
22-19895498-C-G
PubMed:
PMID:21247928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895498C>G , CM000684.2:g.19895498C>G | GRCh38 |
| NC_000022.10:g.19883021C>G , CM000684.1:g.19883021C>G | GRCh37 |
| NC_000022.9:g.18263021C>G | NCBI36 |
| NG_011835.1:g.51339G>C , LRG_417:g.51339G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.858G>C MANE Select | ENSP00000383365.1:p.Arg286Ser | |
| ENST00000334363.14:c.858G>C | ENSP00000334451.9:p.Arg286Ser | |
| ENST00000400518.5:c.768G>C | ENSP00000383362.1:p.Arg256Ser | |
| ENST00000400519.6:c.855G>C | ENSP00000383363.1:p.Arg285Ser | |
| ENST00000400521.6:c.858G>C | ENSP00000383365.1:p.Arg286Ser | |
| ENST00000400525.6:c.789G>C | ENSP00000383369.3:p.Arg263Ser | |
| ENST00000474308.5:c.801G>C | ENSP00000485665.1:p.Arg267Ser | |
| ENST00000475995.3:c.355G>C | ||
| ENST00000491939.6:c.762G>C | ENSP00000485543.1:p.Arg254Ser | |
| ENST00000494454.5:n.932G>C | ||
| ENST00000542719.6:c.570G>C | ENSP00000485128.2:p.Arg190Ser | |
| ENST00000634537.1:c.87G>C | ENSP00000489208.1:p.Arg29Ser | |
| ENST00000635155.1:n.444G>C | ||
| NM_001282512.1:c.858G>C | NP_001269441.1:p.Arg286Ser | |
| NM_006440.4:c.858G>C | NP_006431.2:p.Arg286Ser | |
| NM_001282512.2:c.858G>C | NP_001269441.1:p.Arg286Ser | |
| NM_001352300.1:c.855G>C | NP_001339229.1:p.Arg285Ser | |
| NM_001352301.1:c.768G>C | NP_001339230.1:p.Arg256Ser | |
| NM_001352302.1:c.570G>C | NP_001339231.1:p.Arg190Ser | |
| NM_001352303.1:c.762G>C | NP_001339232.1:p.Arg254Ser | |
| NR_147957.1:n.990G>C | ||
| NM_006440.5:c.858G>C MANE Select | NP_006431.2:p.Arg286Ser | |
| NM_001282512.3:c.858G>C | NP_001269441.1:p.Arg286Ser | |
| NM_001352300.2:c.855G>C | NP_001339229.1:p.Arg285Ser | |
| NR_147957.2:n.816G>C | ||
| NM_001352301.2:c.768G>C | NP_001339230.1:p.Arg256Ser | |
| NM_001352302.2:c.570G>C | NP_001339231.1:p.Arg190Ser | |
| NM_001352303.2:c.762G>C | NP_001339232.1:p.Arg254Ser |