Linked Data
ClinVar Variation Id:
1707085
dbSNP Id:
rs1406481520
gnomAD v2:
9-139399291-G-A
gnomAD v3:
9-136504839-G-A
gnomAD v4:
9-136504839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504839G>A , CM000671.2:g.136504839G>A | GRCh38 |
| NC_000009.11:g.139399291G>A , CM000671.1:g.139399291G>A | GRCh37 |
| NC_000009.10:g.138519112G>A | NCBI36 |
| NG_007458.1:g.45948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2659C>T | ||
| ENST00000651671.1:c.4852C>T MANE Select | ENSP00000498587.1:p.Pro1618Ser | |
| ENST00000679595.1:c.4852C>T | ENSP00000506241.1:p.Pro1618Ser | |
| ENST00000680133.1:c.4738C>T | ENSP00000505319.1:p.Pro1580Ser | |
| ENST00000680218.1:c.4732C>T | ENSP00000505339.1:p.Pro1578Ser | |
| ENST00000680668.1:c.4738C>T | ENSP00000506336.1:p.Pro1580Ser | |
| ENST00000680778.1:c.2449C>T | ENSP00000506033.1:p.Pro817Ser | |
| ENST00000680924.1:c.*2252C>T | ENSP00000506031.1:n.*2252C>T | |
| ENST00000681135.1:c.*2461C>T | ENSP00000506636.1:n.*2461C>T | |
| ENST00000681298.1:n.1665C>T | ||
| ENST00000681454.1:c.*4088C>T | ENSP00000505763.1:n.*4088C>T | |
| ENST00000277541.6:c.4852C>T | ENSP00000277541.6:p.Pro1618Ser | |
| ENST00000494783.1:n.7C>T | ||
| NM_017617.3:c.4852C>T | NP_060087.3:p.Pro1618Ser | |
| XM_011518717.1:c.4153C>T | XP_011517019.1:p.Pro1385Ser | |
| NM_017617.5:c.4852C>T MANE Select | NP_060087.3:p.Pro1618Ser | |
| XM_011518717.2:c.4129C>T | XP_011517019.2:p.Pro1377Ser |