Linked Data
ClinVar Variation Id:
11526
ClinVar RCV Id:
RCV000012282
dbSNP Id:
rs122460154
PubMed:
PMID:7720070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2949425C>G , CM000685.2:g.2949425C>G | GRCh38 |
| NC_000023.10:g.2867466C>G , CM000685.1:g.2867466C>G | GRCh37 |
| NC_000023.9:g.2877466C>G | NCBI36 |
| NG_007091.1:g.19846G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540563.6:c.733G>C | ENSP00000438198.2:p.Gly245Arg | |
| ENST00000681963.1:c.808G>C | ENSP00000507760.1:p.Gly270Arg | |
| ENST00000682184.1:c.610G>C | ENSP00000507043.1:p.Gly204Arg | |
| ENST00000682364.1:c.430+3718G>C | ENSP00000507604.1:n.430+3718G>C | |
| ENST00000683191.1:n.513G>C | ||
| ENST00000683290.1:c.808G>C | ENSP00000508156.1:p.Gly270Arg | |
| ENST00000683677.1:c.721G>C | ENSP00000506786.1:p.Gly241Arg | |
| ENST00000683958.1:c.733G>C | ENSP00000507756.1:p.Gly245Arg | |
| ENST00000684077.1:c.571G>C | ENSP00000506767.1:p.Gly191Arg | |
| ENST00000684117.1:c.571G>C | ENSP00000508337.1:p.Gly191Arg | |
| ENST00000684364.1:c.721G>C | ENSP00000507304.1:p.Gly241Arg | |
| ENST00000684687.1:c.571G>C | ENSP00000507266.1:p.Gly191Arg | |
| ENST00000684738.1:c.430+3718G>C | ENSP00000507481.1:n.430+3718G>C | |
| ENST00000381134.9:c.733G>C MANE Select | ENSP00000370526.3:p.Gly245Arg | |
| ENST00000545496.6:c.808G>C | ENSP00000441417.1:p.Gly270Arg | |
| ENST00000672027.1:c.808G>C | ENSP00000500220.1:p.Gly270Arg | |
| ENST00000672097.1:c.733G>C | ENSP00000500727.1:p.Gly245Arg | |
| ENST00000672606.1:c.430+3718G>C | ENSP00000500638.1:n.430+3718G>C | |
| ENST00000672761.1:c.571G>C | ENSP00000500108.1:p.Gly191Arg | |
| ENST00000673032.1:c.571G>C | ENSP00000500778.1:p.Gly191Arg | |
| ENST00000381134.7:c.733G>C | ENSP00000370526.3:p.Gly245Arg | |
| ENST00000540563.5:c.598G>C | ENSP00000438198.1:p.Gly200Arg | |
| ENST00000545496.5:c.808G>C | ENSP00000441417.1:p.Gly270Arg | |
| NM_000047.2:c.733G>C | NP_000038.2:p.Gly245Arg | |
| NM_001282628.1:c.808G>C | NP_001269557.1:p.Gly270Arg | |
| NM_001282631.1:c.598G>C | NP_001269560.1:p.Gly200Arg | |
| XM_005274518.2:c.760G>C | XP_005274575.1:p.Gly254Arg | |
| XM_005274519.3:c.733G>C | XP_005274576.1:p.Gly245Arg | |
| XM_005274521.3:c.571G>C | XP_005274578.1:p.Gly191Arg | |
| XM_011545519.1:c.571G>C | XP_011543821.1:p.Gly191Arg | |
| XM_011545520.1:c.505+3718G>C | XP_011543822.1:n.505+3718G>C | |
| XM_011545521.1:c.430+3718G>C | XP_011543823.1:n.430+3718G>C | |
| XM_005274519.4:c.733G>C | XP_005274576.1:p.Gly245Arg | |
| XM_005274521.4:c.571G>C | XP_005274578.1:p.Gly191Arg | |
| XM_017029525.1:c.808G>C | XP_016885014.1:p.Gly270Arg | |
| XM_017029526.1:c.505+3718G>C | XP_016885015.1:n.505+3718G>C | |
| NM_000047.3:c.733G>C MANE Select | NP_000038.2:p.Gly245Arg | |
| NM_001282631.2:c.571G>C | NP_001269560.2:p.Gly191Arg | |
| NM_001369079.1:c.760G>C | NP_001356008.1:p.Gly254Arg | |
| NM_001369080.1:c.808G>C | NP_001356009.1:p.Gly270Arg | |
| NM_001282628.2:c.808G>C | NP_001269557.1:p.Gly270Arg |