Linked Data
ClinVar Variation Id:
222755
dbSNP Id:
rs869025493
gnomAD v2:
9-139417349-G-T
gnomAD v3:
9-136522897-G-T
gnomAD v4:
9-136522897-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136522897G>T , CM000671.2:g.136522897G>T | GRCh38 |
| NC_000009.11:g.139417349G>T , CM000671.1:g.139417349G>T | GRCh37 |
| NC_000009.10:g.138537170G>T | NCBI36 |
| NG_007458.1:g.27890C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491649.2:n.474C>A | ||
| ENST00000651671.1:c.695C>A MANE Select | ENSP00000498587.1:p.Thr232Asn | |
| ENST00000679595.1:c.695C>A | ENSP00000506241.1:p.Thr232Asn | |
| ENST00000680133.1:c.695C>A | ENSP00000505319.1:p.Thr232Asn | |
| ENST00000680218.1:c.695C>A | ENSP00000505339.1:p.Thr232Asn | |
| ENST00000680668.1:c.695C>A | ENSP00000506336.1:p.Thr232Asn | |
| ENST00000680924.1:c.695C>A | ENSP00000506031.1:p.Thr232Asn | |
| ENST00000681135.1:c.695C>A | ENSP00000506636.1:p.Thr232Asn | |
| ENST00000681454.1:c.141-3332C>A | ENSP00000505763.1:n.141-3332C>A | |
| ENST00000277541.6:c.695C>A | ENSP00000277541.6:p.Thr232Asn | |
| ENST00000491649.1:n.474C>A | ||
| NM_017617.3:c.695C>A | NP_060087.3:p.Thr232Asn | |
| XM_011518717.1:c.44-3332C>A | XP_011517019.1:n.44-3332C>A | |
| NM_017617.5:c.695C>A MANE Select | NP_060087.3:p.Thr232Asn | |
| XM_011518717.2:c.20-3332C>A | XP_011517019.2:n.20-3332C>A |