Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031514G>A , CM000674.2:g.6031514G>A | GRCh38 |
| NC_000012.11:g.6140680G>A , CM000674.1:g.6140680G>A | GRCh37 |
| NC_000012.10:g.6010941G>A | NCBI36 |
| NG_009072.1:g.98157C>T | |
| NG_009072.2:g.98157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2750C>T MANE Select | ENSP00000261405.5:p.Pro917Leu | |
| ENST00000261405.9:c.2750C>T | ENSP00000261405.5:p.Pro917Leu | |
| ENST00000538635.5:n.421-37580C>T | ||
| NM_000552.3:c.2750C>T | NP_000543.2:p.Pro917Leu | |
| NM_000552.4:c.2750C>T | NP_000543.2:p.Pro917Leu | |
| NM_000552.5:c.2750C>T MANE Select | NP_000543.3:p.Pro917Leu |