Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110430422T>C , CM000675.2:g.110430422T>C | GRCh38 |
| NC_000013.10:g.111082769T>C , CM000675.1:g.111082769T>C | GRCh37 |
| NC_000013.9:g.109880770T>C | NCBI36 |
| NG_032137.1:g.128139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.571T>C MANE Select | ENSP00000353654.5:p.Leu191= | |
| ENST00000462309.2:n.372T>C | ||
| ENST00000650540.1:c.571T>C | ENSP00000497878.1:p.Leu191= | |
| ENST00000360467.5:c.571T>C | ENSP00000353654.5:p.Leu191= | |
| ENST00000462309.1:n.372T>C | ||
| NM_001846.2:c.571T>C | NP_001837.2:p.Leu191= | |
| NM_001846.3:c.571T>C | NP_001837.2:p.Leu191= | |
| NM_001846.4:c.571T>C MANE Select | NP_001837.2:p.Leu191= |