Linked Data
ClinVar Variation Id:
1694507
ClinVar RCV Id:
RCV002262227
dbSNP Id:
rs55743884
ExAC:
1:36031117 C / T
gnomAD v2:
1-36031117-C-T
gnomAD v3:
1-35565516-C-T
gnomAD v4:
1-35565516-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35565516C>T , CM000663.2:g.35565516C>T | GRCh38 |
| NC_000001.10:g.36031117C>T , CM000663.1:g.36031117C>T | GRCh37 |
| NC_000001.9:g.35803704C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.2043C>T MANE Select | ENSP00000362340.2:p.Pro681= | |
| ENST00000356090.8:c.2043C>T | ENSP00000348394.4:p.Pro681= | |
| ENST00000373243.6:c.2043C>T | ENSP00000362340.2:p.Pro681= | |
| ENST00000373253.7:c.1992C>T | ENSP00000362350.3:p.Pro664= | |
| ENST00000423723.1:c.535-1307C>T | ||
| NM_001014839.1:c.2043C>T | NP_001014839.1:p.Pro681= | |
| NM_001014841.1:c.1992C>T | NP_001014841.1:p.Pro664= | |
| NM_014284.2:c.2043C>T | NP_055099.1:p.Pro681= | |
| NM_014284.3:c.2043C>T MANE Select | NP_055099.1:p.Pro681= | |
| NM_001014839.2:c.2043C>T | NP_001014839.1:p.Pro681= | |
| NM_001014841.2:c.1992C>T | NP_001014841.1:p.Pro664= |