MyVariant.info:
GRCh37
chr12:g.121471337G>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121033534G>C , CM000674.2:g.121033534G>C | GRCh38 |
| NC_000012.11:g.121471337G>C , CM000674.1:g.121471337G>C | GRCh37 |
| NC_000012.10:g.119955720G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257570.10:c.408C>G MANE Select | ENSP00000257570.4:p.Leu136= | |
| ENST00000339275.10:c.408C>G | ENSP00000341125.5:p.Leu136= | |
| ENST00000543677.2:c.408C>G | ENSP00000444127.2:p.Leu136= | |
| ENST00000620239.5:c.408C>G | ENSP00000479512.1:p.Leu136= | |
| ENST00000679358.1:c.199-1917C>G | ENSP00000505125.1:n.199-1917C>G | |
| ENST00000679655.1:c.408C>G | ENSP00000506490.1:p.Leu136= | |
| ENST00000680485.1:c.199-1917C>G | ENSP00000506721.1:n.199-1917C>G | |
| ENST00000680620.1:c.408C>G | ENSP00000505685.1:p.Leu136= | |
| ENST00000681590.1:c.199-1917C>G | ENSP00000506074.1:n.199-1917C>G | |
| ENST00000257570.9:c.408C>G | ENSP00000257570.4:p.Leu136= | |
| ENST00000339275.9:c.408C>G | ENSP00000341125.5:p.Leu136= | |
| ENST00000543677.1:c.175-1917C>G | ||
| ENST00000620239.4:c.408C>G | ENSP00000479512.1:p.Leu136= | |
| NM_001261825.1:c.408C>G | NP_001248754.1:p.Leu136= | |
| NM_003733.3:c.408C>G | NP_003724.1:p.Leu136= | |
| NM_198213.2:c.408C>G | NP_937856.1:p.Leu136= | |
| XM_017020140.1:c.408C>G | XP_016875629.1:p.Leu136= | |
| XM_017020141.1:c.408C>G | XP_016875630.1:p.Leu136= | |
| NM_001261825.2:c.408C>G | NP_001248754.1:p.Leu136= | |
| NM_001395418.1:c.408C>G | NP_001382347.1:p.Leu136= | |
| NM_001395419.1:c.408C>G | NP_001382348.1:p.Leu136= | |
| NM_003733.4:c.408C>G MANE Select | NP_003724.1:p.Leu136= | |
| NM_198213.3:c.408C>G | NP_937856.1:p.Leu136= |