Linked Data
dbSNP Id:
rs1194381242
gnomAD v2:
3-49064411-G-C
gnomAD v3:
3-49026978-G-C
gnomAD v4:
3-49026978-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026978G>C , CM000665.2:g.49026978G>C | GRCh38 |
| NC_000003.11:g.49064411G>C , CM000665.1:g.49064411G>C | GRCh37 |
| NC_000003.10:g.49039415G>C | NCBI36 |
| NG_012091.1:g.7465C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2641C>G | ENSP00000515567.1:p.Leu881Val | |
| ENST00000703937.1:c.*1702C>G | ENSP00000515568.1:n.*1702C>G | |
| ENST00000326739.9:c.601C>G MANE Select | ENSP00000321584.4:p.Leu201Val | |
| ENST00000429182.6:c.601C>G | ENSP00000393525.2:p.Leu201Val | |
| ENST00000442157.2:c.526C>G | ENSP00000403502.2:p.Leu176Val | |
| ENST00000462980.2:n.1116C>G | ||
| ENST00000472328.2:n.667C>G | ||
| ENST00000491610.2:n.488C>G | ||
| ENST00000676607.1:n.897C>G | ||
| ENST00000676627.1:n.1331C>G | ||
| ENST00000676708.1:n.1808C>G | ||
| ENST00000676864.1:n.1677C>G | ||
| ENST00000677010.1:c.637C>G | ENSP00000503089.1:p.Leu213Val | |
| ENST00000677108.1:n.2434C>G | ||
| ENST00000677168.1:n.1073C>G | ||
| ENST00000677185.1:n.1091C>G | ||
| ENST00000677205.1:n.1312C>G | ||
| ENST00000677344.1:n.1802C>G | ||
| ENST00000677480.1:c.*278C>G | ENSP00000504378.1:n.*278C>G | |
| ENST00000677519.1:n.1311C>G | ||
| ENST00000677593.1:n.1084C>G | ||
| ENST00000677740.1:n.2033C>G | ||
| ENST00000677991.1:n.1774C>G | ||
| ENST00000678001.1:n.1094C>G | ||
| ENST00000678085.1:n.1084C>G | ||
| ENST00000678177.1:n.2377C>G | ||
| ENST00000678603.1:n.1679C>G | ||
| ENST00000678724.1:c.526C>G | ENSP00000503874.1:p.Leu176Val | |
| ENST00000678920.1:n.759C>G | ||
| ENST00000679019.1:n.1298C>G | ||
| ENST00000679117.1:c.*416C>G | ENSP00000503240.1:n.*416C>G | |
| ENST00000679339.1:n.1369C>G | ||
| ENST00000326739.8:c.601C>G | ENSP00000321584.4:p.Leu201Val | |
| ENST00000429182.5:c.395C>G | ||
| ENST00000442157.1:c.526C>G | ENSP00000403502.1:p.Leu176Val | |
| ENST00000462980.1:n.503C>G | ||
| ENST00000491610.1:n.488C>G | ||
| NM_000884.2:c.601C>G | NP_000875.2:p.Leu201Val | |
| XM_006713128.2:c.811C>G | XP_006713191.1:p.Leu271Val | |
| XM_006713128.3:c.811C>G | XP_006713191.1:p.Leu271Val | |
| XM_017006349.1:c.736C>G | XP_016861838.1:p.Leu246Val | |
| XM_017006350.1:c.736C>G | XP_016861839.1:p.Leu246Val | |
| NM_000884.3:c.601C>G MANE Select | NP_000875.2:p.Leu201Val |