Linked Data
dbSNP Id:
rs1191943674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585207G>C , CM000673.2:g.67585207G>C | GRCh38 |
| NC_000011.9:g.67352678G>C , CM000673.1:g.67352678G>C | GRCh37 |
| NC_000011.8:g.67109254G>C | NCBI36 |
| NG_012075.1:g.6613G>C , LRG_723:g.6613G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.302G>C | ENSP00000381604.1:p.Arg101Pro | |
| ENST00000398606.10:c.302G>C MANE Select | ENSP00000381607.3:p.Arg101Pro | |
| ENST00000646888.1:c.*18G>C | ENSP00000494477.1:n.*18G>C | |
| ENST00000398603.5:c.302G>C | ENSP00000381604.1:p.Arg101Pro | |
| ENST00000398606.7:c.302G>C | ENSP00000381607.3:p.Arg101Pro | |
| ENST00000467591.1:n.413G>C | ||
| ENST00000494593.1:n.1097G>C | ||
| ENST00000498765.5:c.365G>C | ||
| NM_000852.3:c.302G>C , LRG_723t1:c.302G>C | NP_000843.1:p.Arg101Pro | |
| NM_000852.4:c.302G>C MANE Select | NP_000843.1:p.Arg101Pro |