Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70672562G>C , CM000676.2:g.70672562G>C | GRCh38 |
| NC_000014.8:g.71139279G>C , CM000676.1:g.71139279G>C | GRCh37 |
| NC_000014.7:g.70209032G>C | NCBI36 |
| NG_012648.1:g.35776G>C | |
| NG_012648.2:g.35776G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015351.2:c.*1407G>C MANE Select | NP_056166.1:n.*1407G>C |
| ENST00000256367.3:c.*1407G>C MANE Select | ENSP00000256367.2:n.*1407G>C |
| NM_015351.1:c.*1407G>C | NP_056166.1:n.*1407G>C |
| ENST00000256367.2:c.*1407G>C | ENSP00000256367.2:n.*1407G>C |