Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16125329C>G , CM000663.2:g.16125329C>G | GRCh38 |
| NC_000001.10:g.16451824C>G , CM000663.1:g.16451824C>G | GRCh37 |
| NC_000001.9:g.16324411C>G | NCBI36 |
| NG_021396.1:g.35759G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.2826-9G>C MANE Select | NP_004422.2:n.2826-9G>C |
| ENST00000358432.8:c.2826-9G>C MANE Select | ENSP00000351209.5:n.2826-9G>C |
| NM_001329090.1:c.2664-9G>C | NP_001316019.1:n.2664-9G>C |
| NM_001329090.2:c.2664-9G>C | NP_001316019.1:n.2664-9G>C |
| NM_004431.3:c.2826-9G>C | NP_004422.2:n.2826-9G>C |
| NM_004431.4:c.2826-9G>C | NP_004422.2:n.2826-9G>C |
| ENST00000358432.7:c.2826-9G>C | ENSP00000351209.5:n.2826-9G>C |