Linked Data
ClinVar Variation Id:
415730
ClinVar RCV Id:
RCV000462067
dbSNP Id:
rs201680473
ExAC:
2:219136201 C / T
gnomAD v2:
2-219136201-C-T
gnomAD v3:
2-218271478-C-T
gnomAD v4:
2-218271478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218271478C>T , CM000664.2:g.218271478C>T | GRCh38 |
| NC_000002.11:g.219136201C>T , CM000664.1:g.219136201C>T | GRCh37 |
| NC_000002.10:g.218844445C>T | NCBI36 |
| NG_017060.1:g.6087C>T | |
| NG_033036.1:g.3693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436005.3:c.165C>T | ENSP00000414400.3:p.Pro55= | |
| ENST00000472650.2:n.190C>T | ||
| ENST00000684905.1:n.176C>T | ||
| ENST00000685415.1:c.165C>T | ENSP00000510415.1:p.Pro55= | |
| ENST00000687736.1:c.165C>T | ENSP00000509627.1:p.Pro55= | |
| ENST00000688179.1:c.165C>T | ENSP00000508635.1:p.Pro55= | |
| ENST00000689816.1:c.165C>T | ENSP00000508450.1:p.Pro55= | |
| ENST00000690891.1:c.165C>T | ENSP00000509744.1:p.Pro55= | |
| ENST00000691220.1:c.165C>T | ENSP00000509580.1:p.Pro55= | |
| ENST00000691799.1:n.168C>T | ||
| ENST00000692260.1:n.180C>T | ||
| ENST00000273077.9:c.165C>T MANE Select | ENSP00000273077.4:p.Pro55= | |
| ENST00000248451.7:c.165C>T | ENSP00000248451.3:p.Pro55= | |
| ENST00000273077.8:c.165C>T | ENSP00000273077.4:p.Pro55= | |
| ENST00000469689.1:n.959C>T | ||
| ENST00000472650.1:n.99C>T | ||
| NM_001077399.2:c.165C>T | NP_001070867.1:p.Pro55= | |
| NM_015488.4:c.165C>T | NP_056303.3:p.Pro55= | |
| XM_017003771.1:c.165C>T | XP_016859260.1:p.Pro55= | |
| NM_015488.5:c.165C>T MANE Select | NP_056303.3:p.Pro55= | |
| NM_001077399.3:c.165C>T | NP_001070867.1:p.Pro55= |