Linked Data
dbSNP Id:
rs759242875
ExAC:
16:16110370 G / C
gnomAD v2:
16-16110370-G-C
gnomAD v4:
16-16016513-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016513G>C , CM000678.2:g.16016513G>C | GRCh38 |
| NC_000016.9:g.16110370G>C , CM000678.1:g.16110370G>C | GRCh37 |
| NC_000016.8:g.16017871G>C | NCBI36 |
| NG_028268.1:g.71937G>C | |
| NG_028268.2:g.71937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.507G>C | ENSP00000382340.4:p.Leu169= | |
| ENST00000399410.8:c.507G>C MANE Select | ENSP00000382342.3:p.Leu169= | |
| ENST00000572882.3:c.507G>C | ENSP00000461615.2:p.Leu169= | |
| ENST00000574224.2:n.582G>C | ||
| ENST00000677164.1:c.489+1885G>C | ENSP00000502873.1:n.489+1885G>C | |
| ENST00000678422.1:c.507G>C | ENSP00000503954.1:p.Leu169= | |
| ENST00000679043.1:n.459G>C | ||
| ENST00000399408.6:c.-472G>C | ENSP00000382340.3:n.-472G>C | |
| ENST00000399410.7:c.507G>C | ENSP00000382342.3:p.Leu169= | |
| ENST00000572882.2:c.202G>C | ||
| ENST00000574224.1:n.107G>C | ||
| NM_004996.3:c.507G>C | NP_004987.2:p.Leu169= | |
| XM_011522497.1:c.483G>C | XP_011520799.1:p.Leu161= | |
| XM_011522498.1:c.561G>C | XP_011520800.1:p.Leu187= | |
| XM_011522498.2:c.561G>C | XP_011520800.1:p.Leu187= | |
| XM_017023237.1:c.561G>C | XP_016878726.1:p.Leu187= | |
| XM_017023238.1:c.543+1885G>C | XP_016878727.1:n.543+1885G>C | |
| XM_017023239.1:c.423G>C | XP_016878728.1:p.Leu141= | |
| XM_017023240.1:c.561G>C | XP_016878729.1:p.Leu187= | |
| XM_017023241.1:c.405+6612G>C | XP_016878730.1:n.405+6612G>C | |
| XM_017023242.1:c.561G>C | XP_016878731.1:p.Leu187= | |
| XM_017023243.2:c.561G>C | XP_016878732.1:p.Leu187= | |
| NM_004996.4:c.507G>C MANE Select | NP_004987.2:p.Leu169= |