Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817563C>G , CM000664.2:g.135817563C>G | GRCh38 |
| NC_000002.11:g.136575133C>G , CM000664.1:g.136575133C>G | GRCh37 |
| NC_000002.10:g.136291603C>G | NCBI36 |
| NG_008104.2:g.42607G>C , LRG_338:g.42607G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.1485G>C MANE Select | ENSP00000264162.2:p.Leu495= | |
| ENST00000264162.6:c.1485G>C | ENSP00000264162.2:p.Leu495= | |
| NM_002299.2:c.1485G>C , LRG_338t1:c.1485G>C | NP_002290.2:p.Leu495= | |
| NM_002299.3:c.1485G>C | NP_002290.2:p.Leu495= | |
| XM_017004088.2:c.1485G>C | XP_016859577.1:p.Leu495= | |
| NM_002299.4:c.1485G>C MANE Select | NP_002290.2:p.Leu495= |