Linked Data
ClinVar Variation Id:
1374871
dbSNP Id:
rs2152139271
gnomAD v4:
16-68823422-C-A
COSMIC:
COSM6394553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823422C>A , CM000678.2:g.68823422C>A | GRCh38 |
| NC_000016.9:g.68857325C>A , CM000678.1:g.68857325C>A | GRCh37 |
| NC_000016.8:g.67414826C>A | NCBI36 |
| NG_008021.1:g.91131C>A , LRG_301:g.91131C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1960C>A MANE Select | ENSP00000261769.4:p.Pro654Thr | |
| ENST00000261769.9:c.1960C>A | ENSP00000261769.4:p.Pro654Thr | |
| ENST00000422392.6:c.1777C>A | ENSP00000414946.2:p.Pro593Thr | |
| ENST00000562118.1:n.178C>A | ||
| ENST00000562836.5:n.2031C>A | ||
| ENST00000566510.5:c.*626C>A | ENSP00000458139.1:n.*626C>A | |
| ENST00000566612.5:c.*200C>A | ENSP00000454782.1:n.*200C>A | |
| ENST00000611625.4:c.2023C>A | ENSP00000481063.1:p.Pro675Thr | |
| ENST00000612417.4:c.1830+1303C>A | ENSP00000478360.1:n.1830+1303C>A | |
| ENST00000621016.4:c.1865+1268C>A | ENSP00000480664.1:n.1865+1268C>A | |
| NM_004360.3:c.1960C>A , LRG_301t1:c.1960C>A | NP_004351.1:p.Pro654Thr | |
| XM_011523488.1:c.1225C>A | XP_011521790.1:p.Pro409Thr | |
| XM_011523489.1:c.1225C>A | XP_011521791.1:p.Pro409Thr | |
| NM_001317184.1:c.1777C>A | NP_001304113.1:p.Pro593Thr | |
| NM_001317185.1:c.412C>A | NP_001304114.1:p.Pro138Thr | |
| NM_001317186.1:c.-6C>A | NP_001304115.1:n.-6C>A | |
| NM_004360.4:c.1960C>A | NP_004351.1:p.Pro654Thr | |
| NM_004360.5:c.1960C>A MANE Select | NP_004351.1:p.Pro654Thr | |
| NM_001317184.2:c.1777C>A | NP_001304113.1:p.Pro593Thr | |
| NM_001317185.2:c.412C>A | NP_001304114.1:p.Pro138Thr | |
| NM_001317186.2:c.-6C>A | NP_001304115.1:n.-6C>A |