Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154752217A>C , CM000666.2:g.154752217A>C | GRCh38 |
| NC_000004.11:g.155673369A>C , CM000666.1:g.155673369A>C | GRCh37 |
| NC_000004.10:g.155892819A>C | NCBI36 |
| NG_009110.1:g.13207A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004744.5:c.*3081A>C MANE Select | NP_004735.2:n.*3081A>C |
| ENST00000336356.4:c.*3081A>C MANE Select | ENSP00000337224.3:n.*3081A>C |
| NM_001301645.1:c.*3081A>C | NP_001288574.1:n.*3081A>C |
| NM_001301645.2:c.*3081A>C | NP_001288574.1:n.*3081A>C |
| NM_004744.4:c.*3081A>C | NP_004735.2:n.*3081A>C |
| ENST00000336356.3:c.*3081A>C | ENSP00000337224.3:n.*3081A>C |
| ENST00000510733.1:n.4101A>C |