Linked Data
ClinVar Variation Id:
96494
dbSNP Id:
rs76335820
ExAC:
16:29825022 C / T
gnomAD v2:
16-29825022-C-T
gnomAD v3:
16-29813701-C-T
gnomAD v4:
16-29813701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813701C>T , CM000678.2:g.29813701C>T | GRCh38 |
| NC_000016.9:g.29825022C>T , CM000678.1:g.29825022C>T | GRCh37 |
| NC_000016.8:g.29732523C>T | NCBI36 |
| NG_032039.1:g.6614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.647C>T MANE Select | ENSP00000351608.7:p.Pro216Leu | |
| ENST00000567551.2:c.339+308C>T | ENSP00000489813.1:n.339+308C>T | |
| ENST00000636019.1:n.103C>T | ||
| ENST00000636131.1:c.647C>T | ENSP00000490390.1:p.Pro216Leu | |
| ENST00000636619.1:c.647C>T | ENSP00000489669.1:p.Pro216Leu | |
| ENST00000637064.1:c.647C>T | ENSP00000490826.1:p.Pro216Leu | |
| ENST00000637290.1:c.355C>T | ENSP00000490278.1:p.Pro119Ser | |
| ENST00000637403.1:c.647C>T | ENSP00000489782.1:p.Pro216Leu | |
| ENST00000637565.1:c.339+308C>T | ENSP00000490207.1:n.339+308C>T | |
| ENST00000647876.1:c.647C>T | ENSP00000498021.1:p.Pro216Leu | |
| ENST00000300797.7:c.647C>T | ENSP00000300797.6:p.Pro216Leu | |
| ENST00000358758.11:c.647C>T | ENSP00000351608.7:p.Pro216Leu | |
| ENST00000567551.1:n.468C>T | ||
| ENST00000567659.3:c.647C>T | ENSP00000456226.1:p.Pro216Leu | |
| ENST00000572820.2:c.647C>T | ENSP00000458291.2:p.Pro216Leu | |
| ENST00000609618.2:c.647C>T | ENSP00000476774.2:p.Pro216Leu | |
| NM_001256442.1:c.647C>T | NP_001243371.1:p.Pro216Leu | |
| NM_001256443.1:c.647C>T | NP_001243372.1:p.Pro216Leu | |
| NM_145239.2:c.647C>T | NP_660282.2:p.Pro216Leu | |
| XM_011545715.1:c.647C>T | XP_011544017.1:p.Pro216Leu | |
| XM_011545716.1:c.647C>T | XP_011544018.1:p.Pro216Leu | |
| XM_011545717.1:c.647C>T | XP_011544019.1:p.Pro216Leu | |
| XM_011545718.1:c.647C>T | XP_011544020.1:p.Pro216Leu | |
| XM_011545715.3:c.647C>T | XP_011544017.1:p.Pro216Leu | |
| XM_017022887.2:c.647C>T | XP_016878376.1:p.Pro216Leu | |
| XM_017022888.2:c.647C>T | XP_016878377.1:p.Pro216Leu | |
| XM_017022889.2:c.647C>T | XP_016878378.1:p.Pro216Leu | |
| NM_145239.3:c.647C>T MANE Select | NP_660282.2:p.Pro216Leu | |
| NM_001256442.2:c.647C>T | NP_001243371.1:p.Pro216Leu | |
| NM_001256443.2:c.647C>T | NP_001243372.1:p.Pro216Leu |