Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826520C>G , CM000681.2:g.35826520C>G | GRCh38 |
| NC_000019.9:g.36317422C>G , CM000681.1:g.36317422C>G | GRCh37 |
| NC_000019.8:g.41009262C>G | NCBI36 |
| NG_013356.2:g.47768G>C , LRG_693:g.47768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3720G>C MANE Select | ENSP00000368190.4:p.Leu1240= | |
| ENST00000353632.6:c.3600G>C | ENSP00000343634.5:p.Leu1200= | |
| ENST00000378910.9:c.3720G>C | ENSP00000368190.4:p.Leu1240= | |
| NM_004646.3:c.3720G>C , LRG_693t1:c.3720G>C | NP_004637.1:p.Leu1240= | |
| NM_004646.4:c.3720G>C MANE Select | NP_004637.1:p.Leu1240= |