Linked Data
dbSNP Id:
rs773082985
ExAC:
4:6303464 T / C
gnomAD v2:
4-6303464-T-C
gnomAD v4:
4-6301737-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301737T>C , CM000666.2:g.6301737T>C | GRCh38 |
| NC_000004.11:g.6303464T>C , CM000666.1:g.6303464T>C | GRCh37 |
| NC_000004.10:g.6354365T>C | NCBI36 |
| NG_011700.1:g.36888T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1978T>C | ENSP00000507852.1:p.Trp660Arg | |
| ENST00000683395.1:c.1919T>C | ||
| ENST00000684087.1:c.1942T>C | ENSP00000506978.1:p.Trp648Arg | |
| ENST00000506362.2:c.1693T>C | ENSP00000424103.2:p.Trp565Arg | |
| ENST00000673642.1:c.1601T>C | ENSP00000501242.1:n.1601T>C | |
| ENST00000673991.1:c.1978T>C | ENSP00000501033.1:p.Trp660Arg | |
| ENST00000226760.5:c.1942T>C MANE Select | ENSP00000226760.1:p.Trp648Arg | |
| ENST00000503569.5:c.1942T>C | ENSP00000423337.1:p.Trp648Arg | |
| ENST00000507765.1:n.2127T>C | ||
| NM_001145853.1:c.1942T>C | NP_001139325.1:p.Trp648Arg | |
| NM_006005.3:c.1942T>C MANE Select | NP_005996.2:p.Trp648Arg | |
| XM_017008586.1:c.1951T>C | XP_016864075.1:p.Trp651Arg |