Linked Data
dbSNP Id:
rs2093201933
gnomAD v4:
3-49026873-A-G
MyVariant Identifiers:
chr3:g.49064306A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026873A>G , CM000665.2:g.49026873A>G | GRCh38 |
| NC_000003.11:g.49064306A>G , CM000665.1:g.49064306A>G | GRCh37 |
| NC_000003.10:g.49039310A>G | NCBI36 |
| NG_012091.1:g.7570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2673T>C | ENSP00000515567.1:p.Ile891= | |
| ENST00000703937.1:c.*1734T>C | ENSP00000515568.1:n.*1734T>C | |
| ENST00000326739.9:c.633T>C MANE Select | ENSP00000321584.4:p.Ile211= | |
| ENST00000429182.6:c.633T>C | ENSP00000393525.2:p.Ile211= | |
| ENST00000442157.2:c.558T>C | ENSP00000403502.2:p.Ile186= | |
| ENST00000462980.2:n.1148T>C | ||
| ENST00000472328.2:n.699T>C | ||
| ENST00000491610.2:n.593T>C | ||
| ENST00000676607.1:n.929T>C | ||
| ENST00000676627.1:n.1363T>C | ||
| ENST00000676708.1:n.1913T>C | ||
| ENST00000676864.1:n.1782T>C | ||
| ENST00000677010.1:c.669T>C | ENSP00000503089.1:p.Ile223= | |
| ENST00000677108.1:n.2539T>C | ||
| ENST00000677168.1:n.1105T>C | ||
| ENST00000677185.1:n.1196T>C | ||
| ENST00000677205.1:n.1417T>C | ||
| ENST00000677344.1:n.1907T>C | ||
| ENST00000677480.1:c.*310T>C | ENSP00000504378.1:n.*310T>C | |
| ENST00000677519.1:n.1343T>C | ||
| ENST00000677593.1:n.1189T>C | ||
| ENST00000677740.1:n.2138T>C | ||
| ENST00000677991.1:n.1806T>C | ||
| ENST00000678001.1:n.1126T>C | ||
| ENST00000678085.1:n.1189T>C | ||
| ENST00000678177.1:n.2482T>C | ||
| ENST00000678603.1:n.1711T>C | ||
| ENST00000678724.1:c.558T>C | ENSP00000503874.1:p.Ile186= | |
| ENST00000678920.1:n.791T>C | ||
| ENST00000679019.1:n.1403T>C | ||
| ENST00000679117.1:c.*448T>C | ENSP00000503240.1:n.*448T>C | |
| ENST00000679339.1:n.1474T>C | ||
| ENST00000326739.8:c.633T>C | ENSP00000321584.4:p.Ile211= | |
| ENST00000429182.5:c.427T>C | ||
| ENST00000442157.1:c.558T>C | ENSP00000403502.1:p.Ile186= | |
| ENST00000462980.1:n.535T>C | ||
| ENST00000491610.1:n.593T>C | ||
| NM_000884.2:c.633T>C | NP_000875.2:p.Ile211= | |
| XM_006713128.2:c.843T>C | XP_006713191.1:p.Ile281= | |
| XM_006713128.3:c.843T>C | XP_006713191.1:p.Ile281= | |
| XM_017006349.1:c.768T>C | XP_016861838.1:p.Ile256= | |
| XM_017006350.1:c.768T>C | XP_016861839.1:p.Ile256= | |
| NM_000884.3:c.633T>C MANE Select | NP_000875.2:p.Ile211= |