Linked Data
ClinVar Variation Id:
1351599
ClinVar RCV Id:
RCV002044848
dbSNP Id:
rs2134281687
gnomAD v4:
10-68195465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195465T>C , CM000672.2:g.68195465T>C | GRCh38 |
| NC_000010.10:g.69955222T>C , CM000672.1:g.69955222T>C | GRCh37 |
| NC_000010.9:g.69625228T>C | NCBI36 |
| NG_032118.1:g.94349T>C , LRG_410:g.94349T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2266T>C | ENSP00000346369.2:p.Ser756Pro | |
| ENST00000540630.6:c.3145T>C | ENSP00000441668.3:p.Ser1049Pro | |
| ENST00000613327.5:c.3091T>C | ENSP00000480757.2:p.Ser1031Pro | |
| ENST00000688812.1:c.*354T>C | ENSP00000510658.1:n.*354T>C | |
| ENST00000690544.1:c.*2362T>C | ENSP00000508989.1:n.*2362T>C | |
| ENST00000358913.10:c.3091T>C MANE Select | ENSP00000351790.5:p.Ser1031Pro | |
| ENST00000354393.6:c.2266T>C | ENSP00000346369.2:p.Ser756Pro | |
| ENST00000358913.9:c.3091T>C | ENSP00000351790.5:p.Ser1031Pro | |
| ENST00000540630.5:c.3091T>C | ENSP00000441668.2:p.Ser1031Pro | |
| ENST00000613327.4:c.2209T>C | ENSP00000480757.1:p.Ser737Pro | |
| NM_001256267.1:c.3091T>C | NP_001243196.1:p.Ser1031Pro | |
| NM_001256268.1:c.2209T>C | NP_001243197.1:p.Ser737Pro | |
| NM_032578.3:c.3091T>C , LRG_410t1:c.3091T>C | NP_115967.2:p.Ser1031Pro | |
| NR_045662.3:n.2518T>C | ||
| NR_045663.3:n.3220T>C | ||
| XM_006718043.2:c.3145T>C | XP_006718106.1:p.Ser1049Pro | |
| XM_011540292.1:c.3121T>C | XP_011538594.1:p.Ser1041Pro | |
| XM_017016833.1:c.3169T>C | XP_016872322.1:p.Ser1057Pro | |
| XM_017016834.2:c.3091T>C | XP_016872323.1:p.Ser1031Pro | |
| XM_024448236.1:c.1969T>C | XP_024304004.1:p.Ser657Pro | |
| NR_045662.4:n.2628T>C | ||
| NR_045663.4:n.3165T>C | ||
| NM_001256267.2:c.3091T>C | NP_001243196.1:p.Ser1031Pro | |
| NM_001256268.2:c.2209T>C | NP_001243197.1:p.Ser737Pro | |
| NM_032578.4:c.3091T>C MANE Select | NP_115967.2:p.Ser1031Pro |