Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019699G>A , CM000674.2:g.6019699G>A | GRCh38 |
| NC_000012.11:g.6128865G>A , CM000674.1:g.6128865G>A | GRCh37 |
| NC_000012.10:g.5999126G>A | NCBI36 |
| NG_009072.1:g.109972C>T | |
| NG_009072.2:g.109972C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.3719C>T MANE Select | NP_000543.3:p.Pro1240Leu |
| ENST00000261405.10:c.3719C>T MANE Select | ENSP00000261405.5:p.Pro1240Leu |
| NM_000552.3:c.3719C>T | NP_000543.2:p.Pro1240Leu |
| NM_000552.4:c.3719C>T | NP_000543.2:p.Pro1240Leu |
| ENST00000261405.9:c.3719C>T | ENSP00000261405.5:p.Pro1240Leu |
| ENST00000538635.5:n.421-25765C>T | |
| ENST00000539641.1:n.517C>T |