Linked Data
ClinVar Variation Id:
4434
ClinVar RCV Id:
RCV000004684
dbSNP Id:
rs28939089
PubMed:
PMID:11971877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032304G>C , CM000677.2:g.77032304G>C | GRCh38 |
| NC_000015.9:g.77324645G>C , CM000677.1:g.77324645G>C | GRCh37 |
| NC_000015.8:g.75111700G>C | NCBI36 |
| NG_007526.1:g.42181G>C , LRG_172:g.42181G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.1447G>C | ||
| ENST00000697623.1:n.2167G>C | ||
| ENST00000558012.6:c.748G>C MANE Select | ENSP00000452746.1:p.Glu250Gln | |
| ENST00000379595.7:c.748G>C | ENSP00000368914.3:p.Glu250Gln | |
| ENST00000557995.1:n.412G>C | ||
| ENST00000558012.5:c.748G>C | ENSP00000452746.1:p.Glu250Gln | |
| ENST00000559295.5:c.748G>C | ENSP00000452743.1:p.Glu250Gln | |
| ENST00000559785.5:c.943G>C | ENSP00000452986.1:p.Glu315Gln | |
| ENST00000559856.1:c.667G>C | ENSP00000453382.1:p.Glu223Gln | |
| ENST00000560223.5:c.*850G>C | ENSP00000454118.1:n.*850G>C | |
| ENST00000560377.5:n.989G>C | ||
| NM_003978.3:c.748G>C , LRG_172t1:c.748G>C | NP_003969.2:p.Glu250Gln | |
| XM_006720737.2:c.382G>C | XP_006720800.1:p.Glu128Gln | |
| XM_011522163.1:c.805G>C | XP_011520465.1:p.Glu269Gln | |
| XM_011522164.1:c.703G>C | XP_011520466.1:p.Glu235Gln | |
| XM_011522165.1:c.601G>C | XP_011520467.1:p.Glu201Gln | |
| XM_011522166.1:c.805G>C | XP_011520468.1:p.Glu269Gln | |
| XM_011522167.1:c.805G>C | XP_011520469.1:p.Glu269Gln | |
| XM_011522168.1:c.805G>C | XP_011520470.1:p.Glu269Gln | |
| XM_011522169.1:c.798+1026G>C | XP_011520471.1:n.798+1026G>C | |
| XM_011522170.1:c.371+2730G>C | XP_011520472.1:n.371+2730G>C | |
| XM_011522171.1:c.311+2730G>C | XP_011520473.1:n.311+2730G>C | |
| XM_011522172.1:c.311+2730G>C | XP_011520474.1:n.311+2730G>C | |
| XM_011522173.1:c.311+2730G>C | XP_011520475.1:n.311+2730G>C | |
| XR_931936.1:n.1255G>C | ||
| XR_931937.1:n.1198G>C | ||
| XR_931938.1:n.1255G>C | ||
| XR_931939.1:n.1248+1026G>C | ||
| XR_931940.1:n.1069+2730G>C | ||
| NM_001321135.1:c.748G>C | NP_001308064.1:p.Glu250Gln | |
| NM_001321136.1:c.721G>C | NP_001308065.1:p.Glu241Gln | |
| NM_001321137.1:c.943G>C | NP_001308066.1:p.Glu315Gln | |
| NM_003978.4:c.748G>C | NP_003969.2:p.Glu250Gln | |
| NR_135552.1:n.1150+1026G>C | ||
| XM_006720737.3:c.382G>C | XP_006720800.1:p.Glu128Gln | |
| XM_011522163.2:c.805G>C | XP_011520465.1:p.Glu269Gln | |
| XM_011522165.2:c.601G>C | XP_011520467.1:p.Glu201Gln | |
| XM_011522166.2:c.805G>C | XP_011520468.1:p.Glu269Gln | |
| XM_011522167.2:c.805G>C | XP_011520469.1:p.Glu269Gln | |
| XM_011522168.3:c.805G>C | XP_011520470.1:p.Glu269Gln | |
| XM_011522169.2:c.798+1026G>C | XP_011520471.1:n.798+1026G>C | |
| XR_931936.2:n.1253G>C | ||
| XR_931937.2:n.1196G>C | ||
| XR_931938.2:n.1253G>C | ||
| XR_931939.2:n.1246+1026G>C | ||
| NM_001321135.2:c.748G>C | NP_001308064.1:p.Glu250Gln | |
| NM_001321136.2:c.721G>C | NP_001308065.1:p.Glu241Gln | |
| NM_003978.5:c.748G>C MANE Select | NP_003969.2:p.Glu250Gln | |
| NR_135552.2:n.1109+1026G>C |