Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87610848T>C , CM000666.2:g.87610848T>C | GRCh38 |
| NC_000004.11:g.88532000T>C , CM000666.1:g.88532000T>C | GRCh37 |
| NC_000004.10:g.88751024T>C | NCBI36 |
| NG_011595.1:g.7320T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.-28-33T>C MANE Select | ENSP00000498766.1:n.-28-33T>C | |
| ENST00000399271.5:c.-28-33T>C | ENSP00000382213.1:n.-28-33T>C | |
| NM_014208.3:c.-28-33T>C MANE Select | NP_055023.2:n.-28-33T>C |