Linked Data
ClinVar Variation Id:
423824
dbSNP Id:
rs765981944
ExAC:
16:14647997 G / A
gnomAD v2:
16-14647997-G-A
gnomAD v3:
16-14554140-G-A
gnomAD v4:
16-14554140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14554140G>A , CM000678.2:g.14554140G>A | GRCh38 |
| NC_000016.9:g.14647997G>A , CM000678.1:g.14647997G>A | GRCh37 |
| NC_000016.8:g.14555498G>A | NCBI36 |
| NG_042871.1:g.81132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697471.1:n.1781C>T | ||
| ENST00000697472.1:n.1371C>T | ||
| ENST00000697473.1:n.2932C>T | ||
| ENST00000697474.1:c.1330C>T | ENSP00000513329.1:p.Arg444Cys | |
| ENST00000697475.1:n.1485C>T | ||
| ENST00000697476.1:n.1463C>T | ||
| ENST00000437198.7:c.1330C>T MANE Select | ENSP00000387911.2:p.Arg444Cys | |
| ENST00000563641.6:c.*1094C>T | ENSP00000458103.1:n.*1094C>T | |
| ENST00000564113.6:n.1440C>T | ||
| ENST00000650960.1:c.1330C>T | ENSP00000499110.1:p.Arg444Cys | |
| ENST00000650990.1:c.1405C>T | ENSP00000498741.1:p.Arg469Cys | |
| ENST00000651027.1:c.1330C>T | ENSP00000498640.1:p.Arg444Cys | |
| ENST00000651049.1:c.1330C>T | ENSP00000498644.1:p.Arg444Cys | |
| ENST00000651300.1:c.*1212+1514C>T | ENSP00000498294.1:n.*1212+1514C>T | |
| ENST00000651348.1:c.*401C>T | ENSP00000498315.1:n.*401C>T | |
| ENST00000651634.1:c.1330C>T | ENSP00000499078.1:p.Arg444Cys | |
| ENST00000651760.1:c.2518C>T | ||
| ENST00000651865.1:c.1255C>T | ENSP00000498567.1:p.Arg419Cys | |
| ENST00000651913.1:c.1277C>T | ||
| ENST00000652051.1:c.*106C>T | ENSP00000498898.1:n.*106C>T | |
| ENST00000652066.1:c.1110C>T | ||
| ENST00000652411.1:n.1487C>T | ||
| ENST00000652501.1:c.1330C>T | ENSP00000498261.1:p.Arg444Cys | |
| ENST00000652541.1:c.*1162C>T | ENSP00000499206.1:n.*1162C>T | |
| ENST00000652727.1:c.1231+1514C>T | ENSP00000498650.1:n.1231+1514C>T | |
| ENST00000341484.11:c.1147C>T | ENSP00000345456.7:p.Arg383Cys | |
| ENST00000420015.6:c.1192C>T | ENSP00000410525.2:p.Arg398Cys | |
| ENST00000437198.6:c.1330C>T | ENSP00000387911.2:p.Arg444Cys | |
| ENST00000539279.5:c.805C>T | ENSP00000444381.1:p.Arg269Cys | |
| ENST00000564904.5:n.128C>T | ||
| NM_001134477.2:c.1147C>T | NP_001127949.1:p.Arg383Cys | |
| NM_001242992.1:c.1192C>T | NP_001229921.1:p.Arg398Cys | |
| NM_002582.3:c.1330C>T | NP_002573.1:p.Arg444Cys | |
| XM_011522510.1:c.1330C>T | XP_011520812.1:p.Arg444Cys | |
| XM_011522511.1:c.1330C>T | XP_011520813.1:p.Arg444Cys | |
| XM_011522512.1:c.1318+1514C>T | XP_011520814.1:n.1318+1514C>T | |
| XM_011522513.1:c.1147C>T | XP_011520815.1:p.Arg383Cys | |
| NM_002582.4:c.1330C>T MANE Select | NP_002573.1:p.Arg444Cys | |
| XM_011522510.3:c.1330C>T | XP_011520812.1:p.Arg444Cys | |
| XM_011522511.2:c.1330C>T | XP_011520813.1:p.Arg444Cys | |
| XM_011522513.2:c.1147C>T | XP_011520815.1:p.Arg383Cys | |
| XM_017023258.2:c.1252C>T | XP_016878747.1:p.Arg418Cys | |
| XM_017023259.2:c.493C>T | XP_016878748.1:p.Arg165Cys | |
| XM_017023260.1:c.493C>T | XP_016878749.1:p.Arg165Cys | |
| XM_024450292.1:c.493C>T | XP_024306060.1:p.Arg165Cys | |
| XR_001751906.2:n.1447C>T | ||
| NM_001134477.3:c.1147C>T | NP_001127949.1:p.Arg383Cys | |
| NM_001242992.2:c.1192C>T | NP_001229921.1:p.Arg398Cys |