Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003118T>G , CM000664.2:g.189003118T>G | GRCh38 |
| NC_000002.11:g.189867844T>G , CM000664.1:g.189867844T>G | GRCh37 |
| NC_000002.10:g.189576089T>G | NCBI36 |
| NG_007404.1:g.33746T>G , LRG_3:g.33746T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2454+56T>G | ENSP00000415346.2:n.2454+56T>G | |
| ENST00000304636.9:c.2553+56T>G MANE Select | ENSP00000304408.4:n.2553+56T>G | |
| ENST00000304636.7:c.2553+56T>G | ENSP00000304408.3:n.2553+56T>G | |
| ENST00000317840.9:c.2527+82T>G | ENSP00000315243.6:n.2527+82T>G | |
| NM_000090.3:c.2553+56T>G , LRG_3t1:c.2553+56T>G | NP_000081.1:n.2553+56T>G | |
| NM_000090.4:c.2553+56T>G MANE Select | NP_000081.2:n.2553+56T>G |