Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669041G>C , CM000668.2:g.33669041G>C | GRCh38 |
| NC_000006.11:g.33636818G>C , CM000668.1:g.33636818G>C | GRCh37 |
| NC_000006.10:g.33744796G>C | NCBI36 |
| NG_027729.1:g.52663G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2074G>C MANE Select | ENSP00000475177.1:p.Val692Leu | |
| ENST00000374316.9:c.2074G>C | ENSP00000363435.4:p.Val692Leu | |
| ENST00000605930.2:c.2074G>C | ENSP00000475177.1:p.Val692Leu | |
| NM_002224.3:c.2074G>C | NP_002215.2:p.Val692Leu | |
| XM_011514576.1:c.2143G>C | XP_011512878.1:p.Val715Leu | |
| XM_011514577.1:c.1891G>C | XP_011512879.1:p.Val631Leu | |
| XM_011514577.3:c.1891G>C | XP_011512879.1:p.Val631Leu | |
| XM_017010832.1:c.2074G>C | XP_016866321.1:p.Val692Leu | |
| NM_002224.4:c.2074G>C MANE Select | NP_002215.2:p.Val692Leu |