Linked Data
ClinVar Variation Id:
1038
ClinVar RCV Id:
RCV000001093
dbSNP Id:
rs118203969
PubMed:
PMID:19118303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075328T>C , CM000679.2:g.44075328T>C | GRCh38 |
| NC_000017.10:g.42152696T>C , CM000679.1:g.42152696T>C | GRCh37 |
| NC_000017.9:g.39508222T>C | NCBI36 |
| NG_015818.1:g.9599T>C , LRG_182:g.9599T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585361.6:c.*391T>C | ENSP00000466983.1:n.*391T>C | |
| ENST00000588558.6:c.*529T>C | ENSP00000467624.1:n.*529T>C | |
| ENST00000590253.3:c.435T>C | ENSP00000465111.2:p.Ala145= | |
| ENST00000593115.2:c.*575T>C | ENSP00000466821.1:n.*575T>C | |
| ENST00000696383.1:c.209T>C | ENSP00000512593.1:p.Leu70Pro | |
| ENST00000696384.1:c.*114T>C | ENSP00000512594.1:n.*114T>C | |
| ENST00000696385.1:c.*272T>C | ENSP00000512595.1:n.*272T>C | |
| ENST00000696386.1:c.237T>C | ENSP00000512596.1:p.Ala79= | |
| ENST00000696387.1:c.*181T>C | ENSP00000512597.1:n.*181T>C | |
| ENST00000696388.1:c.*400T>C | ENSP00000512598.1:n.*400T>C | |
| ENST00000696389.1:c.*585T>C | ENSP00000512599.1:n.*585T>C | |
| ENST00000696390.1:c.344T>C | ENSP00000512600.1:p.Leu115Pro | |
| ENST00000696391.1:c.*410T>C | ENSP00000512601.1:n.*410T>C | |
| ENST00000696392.1:c.554T>C | ENSP00000512602.1:p.Leu185Pro | |
| ENST00000696393.1:c.554T>C | ENSP00000512603.1:p.Leu185Pro | |
| ENST00000696405.1:c.554T>C | ENSP00000512607.1:p.Leu185Pro | |
| ENST00000269097.9:c.554T>C MANE Select | ENSP00000269097.3:p.Leu185Pro | |
| ENST00000269097.8:c.554T>C | ENSP00000269097.3:p.Leu185Pro | |
| ENST00000585361.5:c.*391T>C | ENSP00000466983.1:n.*391T>C | |
| ENST00000588558.5:c.*529T>C | ENSP00000467624.1:n.*529T>C | |
| ENST00000590253.2:c.56T>C | ||
| ENST00000590639.1:n.575T>C | ||
| ENST00000591696.1:c.446T>C | ENSP00000468677.1:p.Leu149Pro | |
| NM_138387.3:c.554T>C , LRG_182t1:c.554T>C | NP_612396.1:p.Leu185Pro | |
| NR_028581.1:n.984T>C | ||
| NR_028582.1:n.849T>C | ||
| XM_006722179.2:c.435T>C | XP_006722242.1:p.Ala145= | |
| XM_011525473.1:c.209T>C | XP_011523775.1:p.Leu70Pro | |
| XM_011525474.1:c.209T>C | XP_011523776.1:p.Leu70Pro | |
| NM_001319945.1:c.435T>C | NP_001306874.1:p.Ala145= | |
| XM_011525473.3:c.209T>C | XP_011523775.1:p.Leu70Pro | |
| XM_011525474.3:c.209T>C | XP_011523776.1:p.Leu70Pro | |
| XM_017025335.2:c.209T>C | XP_016880824.1:p.Leu70Pro | |
| NM_001319945.2:c.435T>C | NP_001306874.1:p.Ala145= | |
| NR_028581.2:n.803T>C | ||
| NR_028582.2:n.668T>C | ||
| NM_001384165.1:c.209T>C | NP_001371094.1:p.Leu70Pro | |
| NM_001384166.1:c.209T>C | NP_001371095.1:p.Leu70Pro | |
| NM_001384167.1:c.209T>C | NP_001371096.1:p.Leu70Pro | |
| NM_001384168.1:c.209T>C | NP_001371097.1:p.Leu70Pro | |
| NM_138387.4:c.554T>C MANE Select | NP_612396.1:p.Leu185Pro |