MyVariant.info:
GRCh37
chr7:g.141311027G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141611227G>C , CM000669.2:g.141611227G>C | GRCh38 |
| NC_000007.13:g.141311027G>C , CM000669.1:g.141311027G>C | GRCh37 |
| NC_000007.12:g.140957496G>C | NCBI36 |
| NG_032079.1:g.64950G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.330G>C | ENSP00000497039.1:p.Leu110= | |
| ENST00000647898.1:n.220G>C | ||
| ENST00000648068.1:c.330G>C | ENSP00000498112.1:p.Leu110= | |
| ENST00000648395.1:c.54G>C | ENSP00000497666.1:p.Leu18= | |
| ENST00000648489.1:n.361G>C | ||
| ENST00000648690.1:c.54G>C | ENSP00000497945.1:p.Leu18= | |
| ENST00000649014.1:c.330G>C | ENSP00000497984.1:p.Leu110= | |
| ENST00000649286.2:c.330G>C MANE Select | ENSP00000497280.1:p.Leu110= | |
| ENST00000649365.1:c.*338G>C | ENSP00000496835.1:n.*338G>C | |
| ENST00000649538.1:n.358G>C | ||
| ENST00000649790.1:c.54G>C | ENSP00000498193.1:p.Leu18= | |
| ENST00000649914.1:c.318G>C | ENSP00000497848.1:p.Leu106= | |
| ENST00000650006.1:c.330G>C | ENSP00000497457.1:p.Leu110= | |
| ENST00000650365.1:c.*215G>C | ENSP00000497358.1:n.*215G>C | |
| ENST00000650547.1:c.330G>C | ENSP00000496789.1:p.Leu110= | |
| ENST00000355413.8:c.330G>C | ENSP00000347581.4:p.Leu110= | |
| ENST00000465241.5:n.341G>C | ||
| ENST00000473247.5:c.246G>C | ENSP00000420776.1:p.Leu82= | |
| ENST00000473884.5:c.*149G>C | ENSP00000420540.1:n.*149G>C | |
| ENST00000494688.1:c.321G>C | ENSP00000418101.1:p.Leu107= | |
| ENST00000496273.1:n.93G>C | ||
| ENST00000629555.2:c.321G>C | ENSP00000487274.1:p.Leu107= | |
| NM_018238.3:c.330G>C | NP_060708.1:p.Leu110= | |
| XM_005250023.3:c.330G>C | XP_005250080.1:p.Leu110= | |
| XM_011516397.1:c.330G>C | XP_011514699.1:p.Leu110= | |
| NM_001364948.1:c.330G>C | NP_001351877.1:p.Leu110= | |
| NM_018238.4:c.330G>C MANE Select | NP_060708.1:p.Leu110= | |
| XM_011516397.3:c.330G>C | XP_011514699.1:p.Leu110= | |
| XM_024446835.1:c.330G>C | XP_024302603.1:p.Leu110= | |
| NM_001364948.2:c.330G>C | NP_001351877.1:p.Leu110= | |
| NM_001364948.3:c.330G>C | NP_001351877.1:p.Leu110= |