Linked Data
ClinVar Variation Id:
392075
dbSNP Id:
rs376422513
ExAC:
9:139391608 C / T
gnomAD v2:
9-139391608-C-T
gnomAD v3:
9-136497156-C-T
gnomAD v4:
9-136497156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497156C>T , CM000671.2:g.136497156C>T | GRCh38 |
| NC_000009.11:g.139391608C>T , CM000671.1:g.139391608C>T | GRCh37 |
| NC_000009.10:g.138511429C>T | NCBI36 |
| NG_007458.1:g.53631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6583G>A MANE Select | ENSP00000498587.1:p.Gly2195Ser | |
| ENST00000679595.1:c.*1623G>A | ENSP00000506241.1:n.*1623G>A | |
| ENST00000679969.1:n.3179G>A | ||
| ENST00000680003.1:n.2915G>A | ||
| ENST00000680133.1:c.6469G>A | ENSP00000505319.1:p.Gly2157Ser | |
| ENST00000680218.1:c.6463G>A | ENSP00000505339.1:p.Gly2155Ser | |
| ENST00000680668.1:c.6469G>A | ENSP00000506336.1:p.Gly2157Ser | |
| ENST00000680778.1:c.4180G>A | ENSP00000506033.1:p.Gly1394Ser | |
| ENST00000680924.1:c.*3983G>A | ENSP00000506031.1:n.*3983G>A | |
| ENST00000681135.1:c.*4192G>A | ENSP00000506636.1:n.*4192G>A | |
| ENST00000681298.1:n.4688G>A | ||
| ENST00000681454.1:c.*5819G>A | ENSP00000505763.1:n.*5819G>A | |
| ENST00000277541.6:c.6583G>A | ENSP00000277541.6:p.Gly2195Ser | |
| NM_017617.3:c.6583G>A | NP_060087.3:p.Gly2195Ser | |
| XM_011518717.1:c.5884G>A | XP_011517019.1:p.Gly1962Ser | |
| NM_017617.5:c.6583G>A MANE Select | NP_060087.3:p.Gly2195Ser | |
| XM_011518717.2:c.5860G>A | XP_011517019.2:p.Gly1954Ser |