Linked Data
ClinVar Variation Id:
383530
dbSNP Id:
rs759633234
ExAC:
16:29825686 C / T
gnomAD v2:
16-29825686-C-T
gnomAD v3:
16-29814365-C-T
gnomAD v4:
16-29814365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29814365C>T , CM000678.2:g.29814365C>T | GRCh38 |
| NC_000016.9:g.29825686C>T , CM000678.1:g.29825686C>T | GRCh37 |
| NC_000016.8:g.29733187C>T | NCBI36 |
| NG_032039.1:g.7278C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358758.12:c.912C>T MANE Select | ENSP00000351608.7:p.Asp304= | |
| ENST00000567551.2:c.372C>T | ENSP00000489813.1:p.Asp124= | |
| ENST00000636131.1:c.*88C>T | ENSP00000490390.1:n.*88C>T | |
| ENST00000636619.1:c.757C>T | ENSP00000489669.1:p.Arg253Trp | |
| ENST00000637064.1:c.912C>T | ENSP00000490826.1:p.Asp304= | |
| ENST00000637290.1:c.*227C>T | ENSP00000490278.1:n.*227C>T | |
| ENST00000637403.1:c.754C>T | ENSP00000489782.1:p.Arg252Trp | |
| ENST00000637565.1:c.361C>T | ENSP00000490207.1:p.Arg121Trp | |
| ENST00000647876.1:c.*411C>T | ENSP00000498021.1:n.*411C>T | |
| ENST00000300797.7:c.*411C>T | ENSP00000300797.6:n.*411C>T | |
| ENST00000358758.11:c.912C>T | ENSP00000351608.7:p.Asp304= | |
| ENST00000567659.3:c.912C>T | ENSP00000456226.1:p.Asp304= | |
| ENST00000572820.2:c.912C>T | ENSP00000458291.2:p.Asp304= | |
| ENST00000609618.2:c.901C>T | ENSP00000476774.2:p.Arg301Trp | |
| NM_001256442.1:c.912C>T | NP_001243371.1:p.Asp304= | |
| NM_001256443.1:c.*411C>T | NP_001243372.1:n.*411C>T | |
| NM_145239.2:c.912C>T | NP_660282.2:p.Asp304= | |
| XM_011545715.1:c.912C>T | XP_011544017.1:p.Asp304= | |
| XM_011545716.1:c.912C>T | XP_011544018.1:p.Asp304= | |
| XM_011545717.1:c.912C>T | XP_011544019.1:p.Asp304= | |
| XM_011545718.1:c.912C>T | XP_011544020.1:p.Asp304= | |
| XM_011545715.3:c.912C>T | XP_011544017.1:p.Asp304= | |
| XM_017022887.2:c.912C>T | XP_016878376.1:p.Asp304= | |
| XM_017022888.2:c.912C>T | XP_016878377.1:p.Asp304= | |
| XM_017022889.2:c.912C>T | XP_016878378.1:p.Asp304= | |
| NM_145239.3:c.912C>T MANE Select | NP_660282.2:p.Asp304= | |
| NM_001256442.2:c.912C>T | NP_001243371.1:p.Asp304= | |
| NM_001256443.2:c.*411C>T | NP_001243372.1:n.*411C>T |