Linked Data
ClinVar Variation Id:
650607
ClinVar RCV Id:
RCV000805784
dbSNP Id:
rs1594784547
gnomAD v4:
14-34713120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34713120G>A , CM000676.2:g.34713120G>A | GRCh38 |
| NC_000014.8:g.35182326G>A , CM000676.1:g.35182326G>A | GRCh37 |
| NC_000014.7:g.34252077G>A | NCBI36 |
| NG_012740.1:g.6704C>T , LRG_213:g.6704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.328C>T MANE Select | ENSP00000298159.6:p.Pro110Ser | |
| ENST00000341223.8:c.328C>T | ENSP00000340635.3:p.Pro110Ser | |
| ENST00000672163.1:c.328C>T | ENSP00000500375.1:p.Pro110Ser | |
| ENST00000672517.1:c.328C>T | ENSP00000500532.1:p.Pro110Ser | |
| ENST00000673315.1:c.277C>T | ENSP00000500002.1:p.Pro93Ser | |
| ENST00000298159.10:c.328C>T | ENSP00000298159.6:p.Pro110Ser | |
| ENST00000341223.7:c.328C>T | ENSP00000340635.3:p.Pro110Ser | |
| ENST00000422678.2:c.*8C>T | ENSP00000409326.2:n.*8C>T | |
| ENST00000554470.5:c.*8C>T | ENSP00000450862.1:n.*8C>T | |
| ENST00000555765.5:c.277C>T | ENSP00000452451.1:p.Pro93Ser | |
| ENST00000556161.1:c.277C>T | ENSP00000452188.1:p.Pro93Ser | |
| NM_001243645.1:c.277C>T | NP_001230574.1:p.Pro93Ser | |
| NM_021914.7:c.328C>T | NP_068733.1:p.Pro110Ser | |
| NM_138638.4:c.328C>T , LRG_213t1:c.328C>T | NP_619579.1:p.Pro110Ser | |
| NR_028130.1:n.468C>T | ||
| NR_028131.1:n.357C>T | ||
| XM_011536363.1:c.277C>T | XP_011534665.1:p.Pro93Ser | |
| XM_011536363.3:c.277C>T | XP_011534665.1:p.Pro93Ser | |
| NM_138638.5:c.328C>T MANE Select | NP_619579.1:p.Pro110Ser | |
| NM_001243645.2:c.277C>T | NP_001230574.1:p.Pro93Ser | |
| NM_021914.8:c.328C>T | NP_068733.1:p.Pro110Ser | |
| NR_028130.2:n.238C>T | ||
| NR_028131.2:n.127C>T |