Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010778A>G , CM000664.2:g.189010778A>G | GRCh38 |
| NC_000002.11:g.189875504A>G , CM000664.1:g.189875504A>G | GRCh37 |
| NC_000002.10:g.189583749A>G | NCBI36 |
| NG_007404.1:g.41406A>G , LRG_3:g.41406A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.4043A>G | ENSP00000415346.2:p.Gln1348Arg | |
| ENST00000304636.9:c.4142A>G MANE Select | ENSP00000304408.4:p.Gln1381Arg | |
| ENST00000304636.7:c.4142A>G | ENSP00000304408.3:p.Gln1381Arg | |
| ENST00000317840.9:c.3233A>G | ENSP00000315243.6:p.Gln1078Arg | |
| ENST00000487010.1:n.1521A>G | ||
| NM_000090.3:c.4142A>G , LRG_3t1:c.4142A>G | NP_000081.1:p.Gln1381Arg | |
| NM_000090.4:c.4142A>G MANE Select | NP_000081.2:p.Gln1381Arg |