Linked Data
ClinVar Variation Id:
161834
ClinVar RCV Id:
RCV000149370
dbSNP Id:
rs193920857
COSMIC:
COSM1179910
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39138655G>C , CM000684.2:g.39138655G>C | GRCh38 |
| NC_000022.10:g.39534660G>C , CM000684.1:g.39534660G>C | GRCh37 |
| NC_000022.9:g.37864606G>C | NCBI36 |
| NG_051974.1:g.18996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216133.10:c.227C>G MANE Select | ENSP00000216133.5:p.Pro76Arg | |
| ENST00000216133.9:c.227C>G | ENSP00000216133.5:p.Pro76Arg | |
| ENST00000401405.7:c.227C>G | ENSP00000384035.3:p.Pro76Arg | |
| ENST00000434260.1:c.161C>G | ENSP00000410896.1:p.Pro54Arg | |
| ENST00000475962.5:n.44+11134C>G | ||
| NM_175709.3:c.227C>G | NP_783640.1:p.Pro76Arg | |
| XM_005261413.3:c.227C>G | XP_005261470.1:p.Pro76Arg | |
| XM_006724174.2:c.251C>G | XP_006724237.1:p.Pro84Arg | |
| XM_006724175.2:c.251C>G | XP_006724238.1:p.Pro84Arg | |
| XM_006724176.2:c.251C>G | XP_006724239.1:p.Pro84Arg | |
| XM_006724177.2:c.227C>G | XP_006724240.1:p.Pro76Arg | |
| XM_006724178.2:c.251C>G | XP_006724241.1:p.Pro84Arg | |
| XM_011530025.1:c.251C>G | XP_011528327.1:p.Pro84Arg | |
| NM_001346743.1:c.227C>G | NP_001333672.1:p.Pro76Arg | |
| NM_001346744.1:c.227C>G | NP_001333673.1:p.Pro76Arg | |
| NM_175709.4:c.227C>G | NP_783640.1:p.Pro76Arg | |
| XM_006724174.4:c.251C>G | XP_006724237.1:p.Pro84Arg | |
| XM_006724175.4:c.251C>G | XP_006724238.1:p.Pro84Arg | |
| XM_006724176.4:c.251C>G | XP_006724239.1:p.Pro84Arg | |
| XM_006724177.4:c.227C>G | XP_006724240.1:p.Pro76Arg | |
| XM_006724178.4:c.251C>G | XP_006724241.1:p.Pro84Arg | |
| XM_011530025.3:c.251C>G | XP_011528327.1:p.Pro84Arg | |
| NM_175709.5:c.227C>G MANE Select | NP_783640.1:p.Pro76Arg | |
| NM_001346743.2:c.227C>G | NP_001333672.1:p.Pro76Arg | |
| NM_001346744.2:c.227C>G | NP_001333673.1:p.Pro76Arg |