Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47587120T>G , CM000685.2:g.47587120T>G | GRCh38 |
| NC_000023.10:g.47446519T>G , CM000685.1:g.47446519T>G | GRCh37 |
| NC_000023.9:g.47331463T>G | NCBI36 |
| NG_008437.1:g.37738A>C | |
| NG_012533.1:g.9830T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006950.3:c.775-9619A>C MANE Select | NP_008881.2:n.775-9619A>C |
| ENST00000295987.13:c.775-9619A>C MANE Select | ENSP00000295987.7:n.775-9619A>C |
| NM_133499.2:c.775-9619A>C | NP_598006.1:n.775-9619A>C |
| ENST00000295987.11:c.775-9619A>C | ENSP00000295987.7:n.775-9619A>C |
| ENST00000340666.4:c.775-9619A>C | ENSP00000343206.4:n.775-9619A>C |
| ENST00000340666.5:c.775-9619A>C | ENSP00000343206.4:n.775-9619A>C |