Linked Data
dbSNP Id:
rs1567749671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624155A>G , CM000679.2:g.41624155A>G | GRCh38 |
| NC_000017.10:g.39780407A>G , CM000679.1:g.39780407A>G | GRCh37 |
| NC_000017.9:g.37033933A>G | NCBI36 |
| NG_008625.1:g.5476T>C | |
| NG_009090.2:g.167558T>C , LRG_401:g.167558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.355T>C MANE Select | ENSP00000308452.8:p.Trp119Arg | |
| ENST00000311208.12:c.355T>C | ENSP00000308452.8:p.Trp119Arg | |
| ENST00000463128.5:c.-261T>C | ENSP00000468672.1:n.-261T>C | |
| ENST00000491673.1:n.421T>C | ||
| ENST00000493253.5:n.142T>C | ||
| ENST00000540235.5:c.106T>C | ENSP00000441751.2:p.Trp36Arg | |
| ENST00000577817.3:c.310T>C | ENSP00000467418.1:p.Trp104Arg | |
| NM_000422.2:c.355T>C | NP_000413.1:p.Trp119Arg | |
| NM_000422.3:c.355T>C MANE Select | NP_000413.1:p.Trp119Arg |