Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086838T>C , CM000673.2:g.112086838T>C | GRCh38 |
| NC_000011.9:g.111957562T>C , CM000673.1:g.111957562T>C | GRCh37 |
| NC_000011.8:g.111462772T>C | NCBI36 |
| NG_012337.2:g.4992T>C | |
| NG_033145.1:g.4961A>G | |
| NG_012337.3:g.4992T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640554.1:c.-70T>C | ENSP00000491141.1:n.-70T>C | |
| ENST00000375549.7:c.-70T>C | ENSP00000364699.3:n.-70T>C | |
| ENST00000614349.4:c.-70T>C | ENSP00000480666.1:n.-70T>C | |
| NM_001276503.1:c.-70T>C | NP_001263432.1:n.-70T>C | |
| NM_001276504.1:c.-70T>C | NP_001263433.1:n.-70T>C | |
| NM_001276506.1:c.-70T>C | NP_001263435.1:n.-70T>C | |
| NM_003002.3:c.-70T>C | NP_002993.1:n.-70T>C | |
| NR_077060.1:n.15T>C |