Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65958046T>C , CM000674.2:g.65958046T>C | GRCh38 |
| NC_000012.11:g.66351826T>C , CM000674.1:g.66351826T>C | GRCh37 |
| NC_000012.10:g.64638093T>C | NCBI36 |
| NG_016296.1:g.138587T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003483.6:c.283-5199T>C MANE Select | NP_003474.1:n.283-5199T>C |
| ENST00000403681.7:c.283-5199T>C MANE Select | ENSP00000384026.2:n.283-5199T>C |
| NM_003483.4:c.283-5199T>C | NP_003474.1:n.283-5199T>C |
| ENST00000403681.6:c.283-5199T>C | ENSP00000384026.2:n.283-5199T>C |
| ENST00000539662.1:c.320-5199T>C | ENSP00000440919.1:n.320-5199T>C |
| ENST00000541363.5:c.*6613T>C | ENSP00000439317.1:n.*6613T>C |