Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036509A>G , CM000674.2:g.6036509A>G | GRCh38 |
| NC_000012.11:g.6145675A>G , CM000674.1:g.6145675A>G | GRCh37 |
| NC_000012.10:g.6015936A>G | NCBI36 |
| NG_009072.1:g.93162T>C | |
| NG_009072.2:g.93162T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2443-18T>C MANE Select | ENSP00000261405.5:n.2443-18T>C | |
| ENST00000261405.9:c.2443-18T>C | ENSP00000261405.5:n.2443-18T>C | |
| ENST00000538635.5:n.421-42575T>C | ||
| NM_000552.3:c.2443-18T>C | NP_000543.2:n.2443-18T>C | |
| NM_000552.4:c.2443-18T>C | NP_000543.2:n.2443-18T>C | |
| NM_000552.5:c.2443-18T>C MANE Select | NP_000543.3:n.2443-18T>C |