Linked Data
ClinVar Variation Id:
29596
ClinVar RCV Id:
RCV000022433
dbSNP Id:
rs387906590
PubMed:
PMID:19085907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157761020C>G , CM000664.2:g.157761020C>G | GRCh38 |
| NC_000002.11:g.158617532C>G , CM000664.1:g.158617532C>G | GRCh37 |
| NC_000002.10:g.158325778C>G | NCBI36 |
| NG_008004.1:g.119092G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681995.1:n.723G>C | ||
| ENST00000682025.1:c.1124G>C | ENSP00000507086.1:p.Arg375Pro | |
| ENST00000682300.1:c.1124G>C | ENSP00000507102.1:p.Arg375Pro | |
| ENST00000682690.1:n.1141G>C | ||
| ENST00000683404.1:c.1124G>C | ENSP00000506824.1:p.Arg375Pro | |
| ENST00000683426.1:c.1124G>C | ENSP00000507597.1:p.Arg375Pro | |
| ENST00000683441.1:c.1124G>C | ENSP00000508189.1:p.Arg375Pro | |
| ENST00000683487.1:c.1124G>C | ENSP00000507113.1:p.Arg375Pro | |
| ENST00000683820.1:c.1124G>C | ENSP00000507727.1:p.Arg375Pro | |
| ENST00000684104.1:n.1332G>C | ||
| ENST00000684348.1:c.1124G>C | ENSP00000508136.1:p.Arg375Pro | |
| ENST00000684567.1:n.369G>C | ||
| ENST00000684595.1:c.1124G>C | ENSP00000507730.1:p.Arg375Pro | |
| ENST00000424669.6:c.1124G>C | ENSP00000400767.2:p.Arg375Pro | |
| ENST00000434821.7:c.1124G>C MANE Select | ENSP00000405004.1:p.Arg375Pro | |
| ENST00000539637.6:c.1124G>C | ENSP00000440091.2:p.Arg375Pro | |
| ENST00000672582.1:c.1124G>C | ENSP00000500605.1:p.Arg375Pro | |
| ENST00000673324.1:c.1124G>C | ENSP00000500109.1:p.Arg375Pro | |
| ENST00000263640.7:c.1124G>C | ENSP00000263640.3:p.Arg375Pro | |
| ENST00000409283.6:c.1124G>C | ENSP00000387273.2:p.Arg375Pro | |
| ENST00000410057.6:c.1124G>C | ENSP00000387127.2:p.Arg375Pro | |
| ENST00000434821.5:c.1124G>C | ENSP00000405004.1:p.Arg375Pro | |
| NM_001105.4:c.1124G>C | NP_001096.1:p.Arg375Pro | |
| NM_001111067.2:c.1124G>C | NP_001104537.1:p.Arg375Pro | |
| XM_005246939.2:c.1124G>C | XP_005246996.1:p.Arg375Pro | |
| XM_005246940.2:c.1124G>C | XP_005246997.1:p.Arg375Pro | |
| XM_006712825.2:c.1124G>C | XP_006712888.1:p.Arg375Pro | |
| XM_011512106.1:c.1124G>C | XP_011510408.1:p.Arg375Pro | |
| XM_011512107.1:c.1124G>C | XP_011510409.1:p.Arg375Pro | |
| XM_011512108.1:c.1124G>C | XP_011510410.1:p.Arg375Pro | |
| NM_001347663.1:c.1124G>C | NP_001334592.1:p.Arg375Pro | |
| NM_001347664.1:c.1124G>C | NP_001334593.1:p.Arg375Pro | |
| NM_001347665.1:c.1124G>C | NP_001334594.1:p.Arg375Pro | |
| NM_001347666.1:c.1124G>C | NP_001334595.1:p.Arg375Pro | |
| NM_001347667.1:c.1124G>C | NP_001334596.1:p.Arg375Pro | |
| XM_006712825.4:c.1124G>C | XP_006712888.1:p.Arg375Pro | |
| XM_011512108.3:c.1124G>C | XP_011510410.1:p.Arg375Pro | |
| NM_001105.5:c.1124G>C | NP_001096.1:p.Arg375Pro | |
| NM_001111067.4:c.1124G>C MANE Select | NP_001104537.1:p.Arg375Pro | |
| NM_001347667.2:c.1124G>C | NP_001334596.1:p.Arg375Pro |