Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186072982A>C , CM000666.2:g.186072982A>C | GRCh38 |
| NC_000004.11:g.186994136A>C , CM000666.1:g.186994136A>C | GRCh37 |
| NC_000004.10:g.187231130A>C | NCBI36 |
| NG_007278.1:g.8828A>C , LRG_117:g.8828A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698351.1:c.-7-3631A>C | ENSP00000513674.1:n.-7-3631A>C | |
| ENST00000698352.1:c.-7-3631A>C | ENSP00000513675.1:n.-7-3631A>C | |
| ENST00000296795.8:c.-7-3631A>C MANE Select | ENSP00000296795.3:n.-7-3631A>C | |
| ENST00000296795.7:c.-7-3631A>C | ENSP00000296795.2:n.-7-3631A>C | |
| ENST00000513189.1:c.-7-3631A>C | ENSP00000423386.1:n.-7-3631A>C | |
| NM_003265.2:c.-7-3631A>C , LRG_117t1:c.-7-3631A>C | NP_003256.1:n.-7-3631A>C | |
| NM_003265.3:c.-7-3631A>C MANE Select | NP_003256.1:n.-7-3631A>C |