MyVariant.info:
GRCh37
chr16:g.75579334C>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75545436C>G , CM000678.2:g.75545436C>G | GRCh38 |
| NC_000016.9:g.75579334C>G , CM000678.1:g.75579334C>G | GRCh37 |
| NC_000016.8:g.74136835C>G | NCBI36 |
| NG_033109.1:g.15851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*300G>C | ENSP00000510128.1:n.*300G>C | |
| ENST00000686547.1:c.*459G>C | ENSP00000508790.1:n.*459G>C | |
| ENST00000686680.1:c.183G>C | ENSP00000508892.1:p.Pro61= | |
| ENST00000688195.1:c.126G>C | ENSP00000510115.1:p.Pro42= | |
| ENST00000688270.1:c.498G>C | ENSP00000509823.1:p.Pro166= | |
| ENST00000688618.1:c.*300G>C | ENSP00000509271.1:n.*300G>C | |
| ENST00000689040.1:c.*300G>C | ENSP00000508573.1:n.*300G>C | |
| ENST00000692097.1:c.*249G>C | ENSP00000509668.1:n.*249G>C | |
| ENST00000692689.1:c.150G>C | ENSP00000509732.1:p.Pro50= | |
| ENST00000693457.1:c.*300G>C | ENSP00000508414.1:n.*300G>C | |
| ENST00000693682.1:c.498G>C | ENSP00000508670.1:p.Pro166= | |
| ENST00000258173.11:c.498G>C MANE Select | ENSP00000258173.5:p.Pro166= | |
| ENST00000258173.10:c.498G>C | ENSP00000258173.5:p.Pro166= | |
| ENST00000562410.5:c.*300G>C | ENSP00000454582.1:n.*300G>C | |
| ENST00000564576.1:n.346-2753G>C | ||
| ENST00000565067.5:c.438+390G>C | ENSP00000457254.1:n.438+390G>C | |
| ENST00000568377.5:c.585G>C | ENSP00000476267.1:p.Pro195= | |
| ENST00000569294.1:n.242G>C | ||
| ENST00000570006.5:c.460G>C | ENSP00000455520.1:p.Gly154Arg | |
| NM_001077416.2:c.657G>C | NP_001070884.2:p.Pro219= | |
| NM_001077418.2:c.498G>C | NP_001070886.1:p.Pro166= | |
| NR_074083.1:n.698G>C | ||
| NM_001077418.3:c.498G>C MANE Select | NP_001070886.1:p.Pro166= | |
| NR_074083.2:n.664G>C |