Linked Data
dbSNP Id:
rs753744978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714069G>T , CM000681.2:g.6714069G>T | GRCh38 |
| NC_000019.9:g.6714080G>T , CM000681.1:g.6714080G>T | GRCh37 |
| NC_000019.8:g.6665080G>T | NCBI36 |
| NG_009557.1:g.11583C>A , LRG_27:g.11583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.573C>A | ENSP00000512083.1:p.Phe191Leu | |
| ENST00000245907.11:c.696C>A MANE Select | ENSP00000245907.4:p.Phe232Leu | |
| ENST00000245907.10:c.696C>A | ENSP00000245907.4:p.Phe232Leu | |
| ENST00000595577.1:n.200C>A | ||
| NM_000064.3:c.696C>A | NP_000055.2:p.Phe232Leu | |
| NM_000064.4:c.696C>A MANE Select | NP_000055.2:p.Phe232Leu |