MyVariant.info:
GRCh37
chr7:g.141311033G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141611233G>C , CM000669.2:g.141611233G>C | GRCh38 |
| NC_000007.13:g.141311033G>C , CM000669.1:g.141311033G>C | GRCh37 |
| NC_000007.12:g.140957502G>C | NCBI36 |
| NG_032079.1:g.64956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.336G>C | ENSP00000497039.1:p.Leu112= | |
| ENST00000647898.1:n.226G>C | ||
| ENST00000648068.1:c.336G>C | ENSP00000498112.1:p.Leu112= | |
| ENST00000648395.1:c.60G>C | ENSP00000497666.1:p.Leu20= | |
| ENST00000648489.1:n.367G>C | ||
| ENST00000648690.1:c.60G>C | ENSP00000497945.1:p.Leu20= | |
| ENST00000649014.1:c.336G>C | ENSP00000497984.1:p.Leu112= | |
| ENST00000649286.2:c.336G>C MANE Select | ENSP00000497280.1:p.Leu112= | |
| ENST00000649365.1:c.*344G>C | ENSP00000496835.1:n.*344G>C | |
| ENST00000649538.1:n.364G>C | ||
| ENST00000649790.1:c.60G>C | ENSP00000498193.1:p.Leu20= | |
| ENST00000649914.1:c.324G>C | ENSP00000497848.1:p.Leu108= | |
| ENST00000650006.1:c.336G>C | ENSP00000497457.1:p.Leu112= | |
| ENST00000650365.1:c.*221G>C | ENSP00000497358.1:n.*221G>C | |
| ENST00000650547.1:c.336G>C | ENSP00000496789.1:p.Leu112= | |
| ENST00000355413.8:c.336G>C | ENSP00000347581.4:p.Leu112= | |
| ENST00000465241.5:n.347G>C | ||
| ENST00000473247.5:c.252G>C | ENSP00000420776.1:p.Leu84= | |
| ENST00000473884.5:c.*155G>C | ENSP00000420540.1:n.*155G>C | |
| ENST00000494688.1:c.327G>C | ENSP00000418101.1:p.Leu109= | |
| ENST00000496273.1:n.99G>C | ||
| ENST00000629555.2:c.327G>C | ENSP00000487274.1:p.Leu109= | |
| NM_018238.3:c.336G>C | NP_060708.1:p.Leu112= | |
| XM_005250023.3:c.336G>C | XP_005250080.1:p.Leu112= | |
| XM_011516397.1:c.336G>C | XP_011514699.1:p.Leu112= | |
| NM_001364948.1:c.336G>C | NP_001351877.1:p.Leu112= | |
| NM_018238.4:c.336G>C MANE Select | NP_060708.1:p.Leu112= | |
| XM_011516397.3:c.336G>C | XP_011514699.1:p.Leu112= | |
| XM_024446835.1:c.336G>C | XP_024302603.1:p.Leu112= | |
| NM_001364948.2:c.336G>C | NP_001351877.1:p.Leu112= | |
| NM_001364948.3:c.336G>C | NP_001351877.1:p.Leu112= |