Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826699A>G , CM000681.2:g.35826699A>G | GRCh38 |
| NC_000019.9:g.36317601A>G , CM000681.1:g.36317601A>G | GRCh37 |
| NC_000019.8:g.41009441A>G | NCBI36 |
| NG_013356.2:g.47589T>C , LRG_693:g.47589T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3595-54T>C MANE Select | ENSP00000368190.4:n.3595-54T>C | |
| ENST00000353632.6:c.3475-54T>C | ENSP00000343634.5:n.3475-54T>C | |
| ENST00000378910.9:c.3595-54T>C | ENSP00000368190.4:n.3595-54T>C | |
| NM_004646.3:c.3595-54T>C , LRG_693t1:c.3595-54T>C | NP_004637.1:n.3595-54T>C | |
| NM_004646.4:c.3595-54T>C MANE Select | NP_004637.1:n.3595-54T>C |