Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110430424G>A , CM000675.2:g.110430424G>A | GRCh38 |
| NC_000013.10:g.111082771G>A , CM000675.1:g.111082771G>A | GRCh37 |
| NC_000013.9:g.109880772G>A | NCBI36 |
| NG_032137.1:g.128141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.573G>A MANE Select | ENSP00000353654.5:p.Leu191= | |
| ENST00000462309.2:n.374G>A | ||
| ENST00000650540.1:c.573G>A | ENSP00000497878.1:p.Leu191= | |
| ENST00000360467.5:c.573G>A | ENSP00000353654.5:p.Leu191= | |
| ENST00000462309.1:n.374G>A | ||
| NM_001846.2:c.573G>A | NP_001837.2:p.Leu191= | |
| NM_001846.3:c.573G>A | NP_001837.2:p.Leu191= | |
| NM_001846.4:c.573G>A MANE Select | NP_001837.2:p.Leu191= |