Linked Data
ClinVar Variation Id:
191369
ClinVar RCV Id:
RCV000171551
dbSNP Id:
rs786205857
PubMed:
PMID:25168386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27481061A>G , CM000664.2:g.27481061A>G | GRCh38 |
| NC_000002.11:g.27703928A>G , CM000664.1:g.27703928A>G | GRCh37 |
| NC_000002.10:g.27557432A>G | NCBI36 |
| NG_034068.1:g.13751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.770T>C MANE Select | ENSP00000260570.3:p.Leu257Pro | |
| ENST00000476264.7:n.1059T>C | ||
| ENST00000674701.1:c.770T>C | ENSP00000502275.1:p.Leu257Pro | |
| ENST00000674824.1:c.707T>C | ENSP00000501824.1:p.Leu236Pro | |
| ENST00000674932.1:c.*433T>C | ENSP00000501967.1:n.*433T>C | |
| ENST00000675410.1:c.89T>C | ENSP00000502030.1:p.Leu30Pro | |
| ENST00000675618.1:n.850T>C | ||
| ENST00000675690.1:c.770T>C | ENSP00000502283.1:p.Leu257Pro | |
| ENST00000675728.1:c.707T>C | ENSP00000501700.1:p.Leu236Pro | |
| ENST00000675729.1:c.770T>C | ENSP00000502319.1:p.Leu257Pro | |
| ENST00000675963.1:c.*468T>C | ENSP00000502708.1:n.*468T>C | |
| ENST00000676119.1:c.*60T>C | ENSP00000501701.1:n.*60T>C | |
| ENST00000676300.1:n.856T>C | ||
| ENST00000260570.7:c.770T>C | ENSP00000260570.3:p.Leu257Pro | |
| ENST00000359466.10:c.770T>C | ENSP00000352443.6:p.Leu257Pro | |
| ENST00000416524.2:c.707T>C | ENSP00000407408.2:p.Leu236Pro | |
| ENST00000476264.6:n.716T>C | ||
| ENST00000507184.5:n.902T>C | ||
| ENST00000511842.5:n.795T>C | ||
| NM_015662.2:c.770T>C | NP_056477.1:p.Leu257Pro | |
| XM_005264254.1:c.770T>C | XP_005264311.1:p.Leu257Pro | |
| XM_006711986.2:c.707T>C | XP_006712049.1:p.Leu236Pro | |
| XM_006711987.1:c.770T>C | XP_006712050.1:p.Leu257Pro | |
| XM_011532757.1:c.89T>C | XP_011531059.1:p.Leu30Pro | |
| XM_011532758.1:c.770T>C | XP_011531060.1:p.Leu257Pro | |
| XM_006711986.3:c.707T>C | XP_006712049.1:p.Leu236Pro | |
| XM_011532757.2:c.89T>C | XP_011531059.1:p.Leu30Pro | |
| XM_017003790.1:c.707T>C | XP_016859279.1:p.Leu236Pro | |
| XM_017003791.1:c.89T>C | XP_016859280.1:p.Leu30Pro | |
| XM_017003792.1:c.770T>C | XP_016859281.1:p.Leu257Pro | |
| XM_017003793.1:c.-681T>C | XP_016859282.1:n.-681T>C | |
| XM_017003794.1:c.-681T>C | XP_016859283.1:n.-681T>C | |
| XM_017003795.1:c.-1053T>C | XP_016859284.1:n.-1053T>C | |
| XR_001738698.1:n.825T>C | ||
| NM_015662.3:c.770T>C MANE Select | NP_056477.1:p.Leu257Pro |