Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132040T>G , CM000663.2:g.16132040T>G | GRCh38 |
| NC_000001.10:g.16458535T>G , CM000663.1:g.16458535T>G | GRCh37 |
| NC_000001.9:g.16331122T>G | NCBI36 |
| NG_021396.1:g.29048A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2325+24A>C MANE Select | ENSP00000351209.5:n.2325+24A>C | |
| ENST00000358432.7:c.2325+24A>C | ENSP00000351209.5:n.2325+24A>C | |
| NM_004431.3:c.2325+24A>C | NP_004422.2:n.2325+24A>C | |
| NM_001329090.1:c.2163+24A>C | NP_001316019.1:n.2163+24A>C | |
| NM_004431.4:c.2325+24A>C | NP_004422.2:n.2325+24A>C | |
| NM_004431.5:c.2325+24A>C MANE Select | NP_004422.2:n.2325+24A>C | |
| NM_001329090.2:c.2163+24A>C | NP_001316019.1:n.2163+24A>C |