Linked Data
ClinVar Variation Id:
2398827
ClinVar RCV Id:
RCV004231537
dbSNP Id:
rs140737786
ExAC:
3:49064398 T / C
gnomAD v2:
3-49064398-T-C
gnomAD v3:
3-49026965-T-C
gnomAD v4:
3-49026965-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026965T>C , CM000665.2:g.49026965T>C | GRCh38 |
| NC_000003.11:g.49064398T>C , CM000665.1:g.49064398T>C | GRCh37 |
| NC_000003.10:g.49039402T>C | NCBI36 |
| NG_012091.1:g.7478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2654A>G | ENSP00000515567.1:p.Lys885Arg | |
| ENST00000703937.1:c.*1715A>G | ENSP00000515568.1:n.*1715A>G | |
| ENST00000326739.9:c.614A>G MANE Select | ENSP00000321584.4:p.Lys205Arg | |
| ENST00000429182.6:c.614A>G | ENSP00000393525.2:p.Lys205Arg | |
| ENST00000442157.2:c.539A>G | ENSP00000403502.2:p.Lys180Arg | |
| ENST00000462980.2:n.1129A>G | ||
| ENST00000472328.2:n.680A>G | ||
| ENST00000491610.2:n.501A>G | ||
| ENST00000676607.1:n.910A>G | ||
| ENST00000676627.1:n.1344A>G | ||
| ENST00000676708.1:n.1821A>G | ||
| ENST00000676864.1:n.1690A>G | ||
| ENST00000677010.1:c.650A>G | ENSP00000503089.1:p.Lys217Arg | |
| ENST00000677108.1:n.2447A>G | ||
| ENST00000677168.1:n.1086A>G | ||
| ENST00000677185.1:n.1104A>G | ||
| ENST00000677205.1:n.1325A>G | ||
| ENST00000677344.1:n.1815A>G | ||
| ENST00000677480.1:c.*291A>G | ENSP00000504378.1:n.*291A>G | |
| ENST00000677519.1:n.1324A>G | ||
| ENST00000677593.1:n.1097A>G | ||
| ENST00000677740.1:n.2046A>G | ||
| ENST00000677991.1:n.1787A>G | ||
| ENST00000678001.1:n.1107A>G | ||
| ENST00000678085.1:n.1097A>G | ||
| ENST00000678177.1:n.2390A>G | ||
| ENST00000678603.1:n.1692A>G | ||
| ENST00000678724.1:c.539A>G | ENSP00000503874.1:p.Lys180Arg | |
| ENST00000678920.1:n.772A>G | ||
| ENST00000679019.1:n.1311A>G | ||
| ENST00000679117.1:c.*429A>G | ENSP00000503240.1:n.*429A>G | |
| ENST00000679339.1:n.1382A>G | ||
| ENST00000326739.8:c.614A>G | ENSP00000321584.4:p.Lys205Arg | |
| ENST00000429182.5:c.408A>G | ||
| ENST00000442157.1:c.539A>G | ENSP00000403502.1:p.Lys180Arg | |
| ENST00000462980.1:n.516A>G | ||
| ENST00000491610.1:n.501A>G | ||
| NM_000884.2:c.614A>G | NP_000875.2:p.Lys205Arg | |
| XM_006713128.2:c.824A>G | XP_006713191.1:p.Lys275Arg | |
| XM_006713128.3:c.824A>G | XP_006713191.1:p.Lys275Arg | |
| XM_017006349.1:c.749A>G | XP_016861838.1:p.Lys250Arg | |
| XM_017006350.1:c.749A>G | XP_016861839.1:p.Lys250Arg | |
| NM_000884.3:c.614A>G MANE Select | NP_000875.2:p.Lys205Arg |