Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418469C>G , CM000664.2:g.219418469C>G | GRCh38 |
| NC_000002.11:g.220283191C>G , CM000664.1:g.220283191C>G | GRCh37 |
| NC_000002.10:g.219991435C>G | NCBI36 |
| NG_008043.1:g.5093C>G , LRG_380:g.5093C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.7C>G MANE Select | ENSP00000363071.3:p.Gln3Glu | |
| ENST00000373960.3:c.7C>G | ENSP00000363071.3:p.Gln3Glu | |
| NM_001927.3:c.7C>G , LRG_380t1:c.7C>G | NP_001918.3:p.Gln3Glu | |
| NM_001927.4:c.7C>G MANE Select | NP_001918.3:p.Gln3Glu | |
| NM_001382708.1:c.7C>G | NP_001369637.1:p.Gln3Glu | |
| NM_001382709.1:c.7C>G | NP_001369638.1:p.Gln3Glu | |
| NM_001382710.1:c.7C>G | NP_001369639.1:p.Gln3Glu | |
| NM_001382711.1:c.7C>G | NP_001369640.1:p.Gln3Glu | |
| NM_001382712.1:c.7C>G | NP_001369641.1:p.Gln3Glu | |
| NM_001382713.1:c.7C>G | NP_001369642.1:p.Gln3Glu |