Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119185948T>C , CM000666.2:g.119185948T>C | GRCh38 |
| NC_000004.11:g.120107103T>C , CM000666.1:g.120107103T>C | GRCh37 |
| NC_000004.10:g.120326551T>C | NCBI36 |
| NG_029747.1:g.55165T>C , LRG_396:g.55165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.561-18T>C MANE Select | ENSP00000306997.6:n.561-18T>C | |
| ENST00000307128.5:c.561-18T>C | ENSP00000306997.5:n.561-18T>C | |
| NM_016599.4:c.561-18T>C , LRG_396t1:c.561-18T>C | NP_057683.1:n.561-18T>C | |
| NM_016599.5:c.561-18T>C MANE Select | NP_057683.1:n.561-18T>C |