Linked Data
ClinVar Variation Id:
389660
dbSNP Id:
rs200853719
ExAC:
9:139391609 G / A
gnomAD v2:
9-139391609-G-A
gnomAD v3:
9-136497157-G-A
gnomAD v4:
9-136497157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497157G>A , CM000671.2:g.136497157G>A | GRCh38 |
| NC_000009.11:g.139391609G>A , CM000671.1:g.139391609G>A | GRCh37 |
| NC_000009.10:g.138511430G>A | NCBI36 |
| NG_007458.1:g.53630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6582C>T MANE Select | ENSP00000498587.1:p.Ser2194= | |
| ENST00000679595.1:c.*1622C>T | ENSP00000506241.1:n.*1622C>T | |
| ENST00000679969.1:n.3178C>T | ||
| ENST00000680003.1:n.2914C>T | ||
| ENST00000680133.1:c.6468C>T | ENSP00000505319.1:p.Ser2156= | |
| ENST00000680218.1:c.6462C>T | ENSP00000505339.1:p.Ser2154= | |
| ENST00000680668.1:c.6468C>T | ENSP00000506336.1:p.Ser2156= | |
| ENST00000680778.1:c.4179C>T | ENSP00000506033.1:p.Ser1393= | |
| ENST00000680924.1:c.*3982C>T | ENSP00000506031.1:n.*3982C>T | |
| ENST00000681135.1:c.*4191C>T | ENSP00000506636.1:n.*4191C>T | |
| ENST00000681298.1:n.4687C>T | ||
| ENST00000681454.1:c.*5818C>T | ENSP00000505763.1:n.*5818C>T | |
| ENST00000277541.6:c.6582C>T | ENSP00000277541.6:p.Ser2194= | |
| NM_017617.3:c.6582C>T | NP_060087.3:p.Ser2194= | |
| XM_011518717.1:c.5883C>T | XP_011517019.1:p.Ser1961= | |
| NM_017617.5:c.6582C>T MANE Select | NP_060087.3:p.Ser2194= | |
| XM_011518717.2:c.5859C>T | XP_011517019.2:p.Ser1953= |