Linked Data
dbSNP Id:
rs1132358
ExAC:
16:1397815 C / T
gnomAD v2:
16-1397815-C-T
gnomAD v3:
16-1347814-C-T
gnomAD v4:
16-1347814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1347814C>T , CM000678.2:g.1347814C>T | GRCh38 |
| NC_000016.9:g.1397815C>T , CM000678.1:g.1397815C>T | GRCh37 |
| NC_000016.8:g.1337816C>T | NCBI36 |
| NG_016985.1:g.916C>T | |
| NG_033974.1:g.19210C>T | |
| NG_033974.2:g.19210C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561793.2:c.2200C>T | ||
| ENST00000564213.2:c.*212C>T | ENSP00000518583.1:n.*212C>T | |
| ENST00000565665.6:n.3282C>T | ||
| ENST00000567203.2:n.3637C>T | ||
| ENST00000568198.2:n.1799C>T | ||
| ENST00000711102.1:c.3018C>T | ENSP00000518580.1:p.Asp1006= | |
| ENST00000711103.1:c.*1201C>T | ENSP00000518581.1:n.*1201C>T | |
| ENST00000711104.1:c.*212C>T | ENSP00000518582.1:n.*212C>T | |
| ENST00000711105.1:c.2955C>T | ENSP00000518584.1:p.Asp985= | |
| ENST00000711106.1:c.1677C>T | ENSP00000518585.1:p.Asp559= | |
| ENST00000711107.1:c.1614C>T | ENSP00000518586.1:p.Asp538= | |
| ENST00000711108.1:c.1677C>T | ENSP00000518587.1:p.Asp559= | |
| ENST00000711109.1:c.*1059C>T | ENSP00000518588.1:n.*1059C>T | |
| ENST00000711110.1:c.336C>T | ENSP00000518589.1:p.Asp112= | |
| ENST00000711111.1:n.3360C>T | ||
| ENST00000426824.8:c.3018C>T MANE Select | ENSP00000407242.4:p.Asp1006= | |
| ENST00000324385.9:c.3123C>T | ENSP00000324510.5:p.Asp1041= | |
| ENST00000397488.6:c.3069C>T | ENSP00000380625.2:p.Asp1023= | |
| ENST00000421665.6:c.2910C>T | ENSP00000409533.2:p.Asp970= | |
| ENST00000426824.7:c.3018C>T | ENSP00000407242.3:p.Asp1006= | |
| ENST00000562208.5:c.2949C>T | ENSP00000458134.1:p.Asp983= | |
| ENST00000566162.1:c.627-1552C>T | ||
| ENST00000566389.1:n.504C>T | ||
| ENST00000568887.5:c.2934C>T | ENSP00000457644.1:p.Asp978= | |
| ENST00000628027.2:c.3069C>T | ENSP00000487275.1:p.Asp1023= | |
| NM_001199096.1:c.2910C>T | NP_001186025.1:p.Asp970= | |
| NM_001199097.1:c.3018C>T | NP_001186026.1:p.Asp1006= | |
| NM_001199098.1:c.2949C>T | NP_001186027.1:p.Asp983= | |
| NM_001199099.1:c.2934C>T | NP_001186028.1:p.Asp978= | |
| NM_001286464.1:c.3069C>T | NP_001273393.1:p.Asp1023= | |
| NM_003933.4:c.3123C>T | NP_003924.2:p.Asp1041= | |
| XM_011522728.1:c.3174C>T | XP_011521030.1:p.Asp1058= | |
| XM_011522729.1:c.3174C>T | XP_011521031.1:p.Asp1058= | |
| XM_011522730.1:c.3174C>T | XP_011521032.1:p.Asp1058= | |
| XM_011522730.2:c.3174C>T | XP_011521032.1:p.Asp1058= | |
| NM_001199097.2:c.3018C>T MANE Select | NP_001186026.1:p.Asp1006= | |
| NM_001199098.2:c.2949C>T | NP_001186027.1:p.Asp983= | |
| NM_001199099.2:c.2934C>T | NP_001186028.1:p.Asp978= | |
| NM_001286464.2:c.3069C>T | NP_001273393.2:p.Asp1023= | |
| NM_001199096.2:c.2910C>T | NP_001186025.1:p.Asp970= | |
| NM_003933.5:c.3123C>T | NP_003924.2:p.Asp1041= |