Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157734G>C , CM000670.2:g.98157734G>C | GRCh38 |
| NC_000008.10:g.99169962G>C , CM000670.1:g.99169962G>C | GRCh37 |
| NC_000008.9:g.99239138G>C | NCBI36 |
| NG_052869.1:g.45442G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2538G>C MANE Select | ENSP00000385787.2:p.Leu846= | |
| ENST00000349693.3:c.2538G>C | ENSP00000339529.3:p.Leu846= | |
| ENST00000401707.6:c.2538G>C | ENSP00000385787.2:p.Leu846= | |
| NM_001145860.1:c.2538G>C | NP_001139332.1:p.Leu846= | |
| NM_001145861.1:c.2538G>C | NP_001139333.1:p.Leu846= | |
| NM_015029.2:c.2538G>C | NP_055844.2:p.Leu846= | |
| NM_001145860.2:c.2538G>C MANE Select | NP_001139332.1:p.Leu846= | |
| NM_001145861.2:c.2538G>C | NP_001139333.1:p.Leu846= | |
| NM_015029.3:c.2538G>C | NP_055844.2:p.Leu846= |