Linked Data
ClinVar Variation Id:
409042
ClinVar RCV Id:
RCV000462955
dbSNP Id:
rs377353441
ExAC:
9:139405688 G / A
gnomAD v2:
9-139405688-G-A
gnomAD v3:
9-136511236-G-A
gnomAD v4:
9-136511236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136511236G>A , CM000671.2:g.136511236G>A | GRCh38 |
| NC_000009.11:g.139405688G>A , CM000671.1:g.139405688G>A | GRCh37 |
| NC_000009.10:g.138525509G>A | NCBI36 |
| NG_007458.1:g.39551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645828.1:n.310C>T | ||
| ENST00000646957.2:n.126C>T | ||
| ENST00000651671.1:c.2503C>T MANE Select | ENSP00000498587.1:p.Pro835Ser | |
| ENST00000679595.1:c.2503C>T | ENSP00000506241.1:p.Pro835Ser | |
| ENST00000680133.1:c.2389C>T | ENSP00000505319.1:p.Pro797Ser | |
| ENST00000680218.1:c.2503C>T | ENSP00000505339.1:p.Pro835Ser | |
| ENST00000680668.1:c.2389C>T | ENSP00000506336.1:p.Pro797Ser | |
| ENST00000680778.1:c.100C>T | ENSP00000506033.1:p.Pro34Ser | |
| ENST00000680924.1:c.2503C>T | ENSP00000506031.1:p.Pro835Ser | |
| ENST00000681135.1:c.*112C>T | ENSP00000506636.1:n.*112C>T | |
| ENST00000681454.1:c.*1739C>T | ENSP00000505763.1:n.*1739C>T | |
| ENST00000277541.6:c.2503C>T | ENSP00000277541.6:p.Pro835Ser | |
| NM_017617.3:c.2503C>T | NP_060087.3:p.Pro835Ser | |
| XM_011518717.1:c.1804C>T | XP_011517019.1:p.Pro602Ser | |
| NM_017617.5:c.2503C>T MANE Select | NP_060087.3:p.Pro835Ser | |
| XM_011518717.2:c.1780C>T | XP_011517019.2:p.Pro594Ser |