Linked Data
ClinVar Variation Id:
39110
ClinVar RCV Id:
RCV000032377
dbSNP Id:
rs199422299
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278765G>C , CM000667.2:g.1278765G>C | GRCh38 |
| NC_000005.9:g.1278880G>C , CM000667.1:g.1278880G>C | GRCh37 |
| NC_000005.8:g.1331880G>C | NCBI36 |
| NG_009265.1:g.21283C>G , LRG_343:g.21283C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.2162C>G MANE Select | ENSP00000309572.5:p.Pro721Arg | |
| ENST00000656021.1:c.*1708C>G | ENSP00000499759.1:n.*1708C>G | |
| ENST00000310581.9:c.2162C>G | ENSP00000309572.5:p.Pro721Arg | |
| ENST00000334602.10:c.2162C>G | ENSP00000334346.6:p.Pro721Arg | |
| ENST00000460137.6:c.2131-5C>G | ENSP00000425003.1:n.2131-5C>G | |
| ENST00000484238.6:n.975C>G | ||
| ENST00000508104.2:c.2162C>G | ENSP00000426042.2:p.Pro721Arg | |
| NM_001193376.1:c.2162C>G | NP_001180305.1:p.Pro721Arg | |
| NM_198253.2:c.2162C>G , LRG_343t1:c.2162C>G | NP_937983.2:p.Pro721Arg | |
| XM_011514104.1:c.632C>G | XP_011512406.1:p.Pro211Arg | |
| XM_011514105.1:c.518C>G | XP_011512407.1:p.Pro173Arg | |
| XM_011514106.1:c.518C>G | XP_011512408.1:p.Pro173Arg | |
| NR_149162.1:n.2220C>G | ||
| NR_149163.1:n.2189-5C>G | ||
| NM_001193376.2:c.2162C>G | NP_001180305.1:p.Pro721Arg | |
| NM_198253.3:c.2162C>G MANE Select | NP_937983.2:p.Pro721Arg | |
| NR_149162.2:n.2241C>G | ||
| NR_149163.2:n.2210-5C>G | ||
| NM_001193376.3:c.2162C>G | NP_001180305.1:p.Pro721Arg | |
| NR_149162.3:n.2241C>G | ||
| NR_149163.3:n.2210-5C>G |