Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052400T>C , CM000663.2:g.55052400T>C | GRCh38 |
| NC_000001.10:g.55518073T>C , CM000663.1:g.55518073T>C | GRCh37 |
| NC_000001.9:g.55290661T>C | NCBI36 |
| NG_009061.1:g.17854T>C , LRG_275:g.17854T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.646T>C | ENSP00000501161.2:p.Phe216Leu | |
| ENST00000710286.1:c.1003T>C | ENSP00000518176.1:p.Phe335Leu | |
| ENST00000673726.1:c.*142T>C | ENSP00000501004.1:n.*142T>C | |
| ENST00000673903.1:c.271T>C | ENSP00000501257.1:p.Phe91Leu | |
| ENST00000302118.5:c.646T>C MANE Select | ENSP00000303208.5:p.Phe216Leu | |
| ENST00000490692.1:n.1467T>C | ||
| NM_174936.3:c.646T>C , LRG_275t1:c.646T>C | NP_777596.2:p.Phe216Leu | |
| NR_110451.1:n.305T>C | ||
| NM_174936.4:c.646T>C MANE Select | NP_777596.2:p.Phe216Leu | |
| NR_110451.2:n.305T>C |