Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036149A>C , CM000674.2:g.6036149A>C | GRCh38 |
| NC_000012.11:g.6145315A>C , CM000674.1:g.6145315A>C | GRCh37 |
| NC_000012.10:g.6015576A>C | NCBI36 |
| NG_009072.1:g.93522T>G | |
| NG_009072.2:g.93522T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2546+239T>G MANE Select | ENSP00000261405.5:n.2546+239T>G | |
| ENST00000261405.9:c.2546+239T>G | ENSP00000261405.5:n.2546+239T>G | |
| ENST00000538635.5:n.421-42215T>G | ||
| NM_000552.3:c.2546+239T>G | NP_000543.2:n.2546+239T>G | |
| NM_000552.4:c.2546+239T>G | NP_000543.2:n.2546+239T>G | |
| NM_000552.5:c.2546+239T>G MANE Select | NP_000543.3:n.2546+239T>G |