Linked Data
dbSNP Id:
rs748260234
ExAC:
16:16110360 A / T
gnomAD v2:
16-16110360-A-T
gnomAD v4:
16-16016503-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016503A>T , CM000678.2:g.16016503A>T | GRCh38 |
| NC_000016.9:g.16110360A>T , CM000678.1:g.16110360A>T | GRCh37 |
| NC_000016.8:g.16017861A>T | NCBI36 |
| NG_028268.1:g.71927A>T | |
| NG_028268.2:g.71927A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.497A>T | ENSP00000382340.4:p.Gln166Leu | |
| ENST00000399410.8:c.497A>T MANE Select | ENSP00000382342.3:p.Gln166Leu | |
| ENST00000572882.3:c.497A>T | ENSP00000461615.2:p.Gln166Leu | |
| ENST00000574224.2:n.572A>T | ||
| ENST00000677164.1:c.489+1875A>T | ENSP00000502873.1:n.489+1875A>T | |
| ENST00000678422.1:c.497A>T | ENSP00000503954.1:p.Gln166Leu | |
| ENST00000679043.1:n.449A>T | ||
| ENST00000399408.6:c.-482A>T | ENSP00000382340.3:n.-482A>T | |
| ENST00000399410.7:c.497A>T | ENSP00000382342.3:p.Gln166Leu | |
| ENST00000572882.2:c.192A>T | ||
| ENST00000574224.1:n.97A>T | ||
| NM_004996.3:c.497A>T | NP_004987.2:p.Gln166Leu | |
| XM_011522497.1:c.473A>T | XP_011520799.1:p.Gln158Leu | |
| XM_011522498.1:c.551A>T | XP_011520800.1:p.Gln184Leu | |
| XM_011522498.2:c.551A>T | XP_011520800.1:p.Gln184Leu | |
| XM_017023237.1:c.551A>T | XP_016878726.1:p.Gln184Leu | |
| XM_017023238.1:c.543+1875A>T | XP_016878727.1:n.543+1875A>T | |
| XM_017023239.1:c.413A>T | XP_016878728.1:p.Gln138Leu | |
| XM_017023240.1:c.551A>T | XP_016878729.1:p.Gln184Leu | |
| XM_017023241.1:c.405+6602A>T | XP_016878730.1:n.405+6602A>T | |
| XM_017023242.1:c.551A>T | XP_016878731.1:p.Gln184Leu | |
| XM_017023243.2:c.551A>T | XP_016878732.1:p.Gln184Leu | |
| NM_004996.4:c.497A>T MANE Select | NP_004987.2:p.Gln166Leu |