Linked Data
dbSNP Id:
rs767417639
ExAC:
16:16110373 T / C
gnomAD v2:
16-16110373-T-C
gnomAD v3:
16-16016516-T-C
gnomAD v4:
16-16016516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016516T>C , CM000678.2:g.16016516T>C | GRCh38 |
| NC_000016.9:g.16110373T>C , CM000678.1:g.16110373T>C | GRCh37 |
| NC_000016.8:g.16017874T>C | NCBI36 |
| NG_028268.1:g.71940T>C | |
| NG_028268.2:g.71940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.510T>C | ENSP00000382340.4:p.Phe170= | |
| ENST00000399410.8:c.510T>C MANE Select | ENSP00000382342.3:p.Phe170= | |
| ENST00000572882.3:c.510T>C | ENSP00000461615.2:p.Phe170= | |
| ENST00000574224.2:n.585T>C | ||
| ENST00000677164.1:c.489+1888T>C | ENSP00000502873.1:n.489+1888T>C | |
| ENST00000678422.1:c.510T>C | ENSP00000503954.1:p.Phe170= | |
| ENST00000679043.1:n.462T>C | ||
| ENST00000399408.6:c.-469T>C | ENSP00000382340.3:n.-469T>C | |
| ENST00000399410.7:c.510T>C | ENSP00000382342.3:p.Phe170= | |
| ENST00000572882.2:c.205T>C | ||
| ENST00000574224.1:n.110T>C | ||
| NM_004996.3:c.510T>C | NP_004987.2:p.Phe170= | |
| XM_011522497.1:c.486T>C | XP_011520799.1:p.Phe162= | |
| XM_011522498.1:c.564T>C | XP_011520800.1:p.Phe188= | |
| XM_011522498.2:c.564T>C | XP_011520800.1:p.Phe188= | |
| XM_017023237.1:c.564T>C | XP_016878726.1:p.Phe188= | |
| XM_017023238.1:c.543+1888T>C | XP_016878727.1:n.543+1888T>C | |
| XM_017023239.1:c.426T>C | XP_016878728.1:p.Phe142= | |
| XM_017023240.1:c.564T>C | XP_016878729.1:p.Phe188= | |
| XM_017023241.1:c.405+6615T>C | XP_016878730.1:n.405+6615T>C | |
| XM_017023242.1:c.564T>C | XP_016878731.1:p.Phe188= | |
| XM_017023243.2:c.564T>C | XP_016878732.1:p.Phe188= | |
| NM_004996.4:c.510T>C MANE Select | NP_004987.2:p.Phe170= |