Linked Data
ClinVar Variation Id:
1767557
dbSNP Id:
rs758194213
ExAC:
11:2604703 C / T
gnomAD v2:
11-2604703-C-T
gnomAD v4:
11-2583473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583473C>T , CM000673.2:g.2583473C>T | GRCh38 |
| NC_000011.9:g.2604703C>T , CM000673.1:g.2604703C>T | GRCh37 |
| NC_000011.8:g.2561279C>T | NCBI36 |
| NG_008935.1:g.143483C>T , LRG_287:g.143483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.699C>T | ENSP00000434560.2:p.Pro233= | |
| ENST00000646564.2:c.516C>T | ENSP00000495806.2:p.Pro172= | |
| ENST00000155840.12:c.960C>T MANE Select | ENSP00000155840.2:p.Pro320= | |
| ENST00000335475.6:c.579C>T | ENSP00000334497.5:p.Pro193= | |
| ENST00000646564.1:c.162C>T | ENSP00000495806.1:p.Pro54= | |
| ENST00000155840.9:c.960C>T | ENSP00000155840.2:p.Pro320= | |
| ENST00000335475.5:c.579C>T | ENSP00000334497.5:p.Pro193= | |
| NM_000218.2:c.960C>T , LRG_287t1:c.960C>T | NP_000209.2:p.Pro320= | |
| NM_181798.1:c.579C>T , LRG_287t2:c.579C>T | NP_861463.1:p.Pro193= | |
| NM_000218.3:c.960C>T MANE Select | NP_000209.2:p.Pro320= |