Linked Data
ClinVar Variation Id:
1040
ClinVar RCV Id:
RCV000001095
dbSNP Id:
rs118203971
PubMed:
PMID:19118303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075786G>C , CM000679.2:g.44075786G>C | GRCh38 |
| NC_000017.10:g.42153154G>C , CM000679.1:g.42153154G>C | GRCh37 |
| NC_000017.9:g.39508680G>C | NCBI36 |
| NG_015818.1:g.10057G>C , LRG_182:g.10057G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585361.6:c.*621G>C | ENSP00000466983.1:n.*621G>C | |
| ENST00000588558.6:c.*759G>C | ENSP00000467624.1:n.*759G>C | |
| ENST00000590253.3:c.*77G>C | ENSP00000465111.2:n.*77G>C | |
| ENST00000593115.2:c.*805G>C | ENSP00000466821.1:n.*805G>C | |
| ENST00000696383.1:c.439G>C | ENSP00000512593.1:p.Gly147Arg | |
| ENST00000696384.1:c.*344G>C | ENSP00000512594.1:n.*344G>C | |
| ENST00000696385.1:c.*502G>C | ENSP00000512595.1:n.*502G>C | |
| ENST00000696386.1:c.*77G>C | ENSP00000512596.1:n.*77G>C | |
| ENST00000696387.1:c.*411G>C | ENSP00000512597.1:n.*411G>C | |
| ENST00000696388.1:c.*630G>C | ENSP00000512598.1:n.*630G>C | |
| ENST00000696389.1:c.*815G>C | ENSP00000512599.1:n.*815G>C | |
| ENST00000696390.1:c.574G>C | ENSP00000512600.1:p.Gly192Arg | |
| ENST00000696391.1:c.*640G>C | ENSP00000512601.1:n.*640G>C | |
| ENST00000696392.1:c.784G>C | ENSP00000512602.1:p.Gly262Arg | |
| ENST00000696393.1:c.784G>C | ENSP00000512603.1:p.Gly262Arg | |
| ENST00000696405.1:c.677+335G>C | ENSP00000512607.1:n.677+335G>C | |
| ENST00000269097.9:c.784G>C MANE Select | ENSP00000269097.3:p.Gly262Arg | |
| ENST00000269097.8:c.784G>C | ENSP00000269097.3:p.Gly262Arg | |
| ENST00000585361.5:c.*621G>C | ENSP00000466983.1:n.*621G>C | |
| ENST00000588558.5:c.*759G>C | ENSP00000467624.1:n.*759G>C | |
| ENST00000590253.2:c.286G>C | ||
| ENST00000590639.1:n.805G>C | ||
| ENST00000591696.1:c.676G>C | ENSP00000468677.1:p.Gly226Arg | |
| NM_138387.3:c.784G>C , LRG_182t1:c.784G>C | NP_612396.1:p.Gly262Arg | |
| NR_028581.1:n.1214G>C | ||
| NR_028582.1:n.1079G>C | ||
| XM_011525473.1:c.439G>C | XP_011523775.1:p.Gly147Arg | |
| XM_011525474.1:c.439G>C | XP_011523776.1:p.Gly147Arg | |
| NM_001319945.1:c.*77G>C | NP_001306874.1:n.*77G>C | |
| XM_011525473.3:c.439G>C | XP_011523775.1:p.Gly147Arg | |
| XM_011525474.3:c.439G>C | XP_011523776.1:p.Gly147Arg | |
| XM_017025335.2:c.439G>C | XP_016880824.1:p.Gly147Arg | |
| NM_001319945.2:c.*77G>C | NP_001306874.1:n.*77G>C | |
| NR_028581.2:n.1033G>C | ||
| NR_028582.2:n.898G>C | ||
| NM_001384165.1:c.439G>C | NP_001371094.1:p.Gly147Arg | |
| NM_001384166.1:c.439G>C | NP_001371095.1:p.Gly147Arg | |
| NM_001384167.1:c.439G>C | NP_001371096.1:p.Gly147Arg | |
| NM_001384168.1:c.439G>C | NP_001371097.1:p.Gly147Arg | |
| NM_138387.4:c.784G>C MANE Select | NP_612396.1:p.Gly262Arg |