Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40094529C>G , CM000679.2:g.40094529C>G | GRCh38 |
| NC_000017.10:g.38250782C>G , CM000679.1:g.38250782C>G | GRCh37 |
| NC_000017.9:g.35504308C>G | NCBI36 |
| NG_023345.1:g.37337C>G | |
| NG_033084.1:g.11197G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021724.5:c.1435-407G>C MANE Select | NP_068370.1:n.1435-407G>C |
| ENST00000246672.4:c.1435-407G>C MANE Select | ENSP00000246672.3:n.1435-407G>C |
| NM_021724.4:c.1435-407G>C | NP_068370.1:n.1435-407G>C |
| ENST00000246672.3:c.1435-407G>C | ENSP00000246672.3:n.1435-407G>C |