UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
200941
dbSNP Id:
rs794728593
gnomAD v3:
1-156134933-G-A
gnomAD v4:
1-156134933-G-A
PubMed:
PMID:28679633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156134933G>A , CM000663.2:g.156134933G>A | GRCh38 |
| NC_000001.10:g.156104724G>A , CM000663.1:g.156104724G>A | GRCh37 |
| NC_000001.9:g.154371348G>A | NCBI36 |
| NG_008692.2:g.57361G>A , LRG_254:g.57361G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504687.7:c.210G>A | ENSP00000426535.3:p.Val70= | |
| ENST00000682650.1:c.768G>A | ENSP00000506904.1:p.Val256= | |
| ENST00000683032.1:c.768G>A | ENSP00000506771.1:p.Val256= | |
| ENST00000684195.1:c.768G>A | ENSP00000508220.1:p.Val256= | |
| ENST00000361308.9:c.768G>A | ENSP00000355292.6:p.Val256= | |
| ENST00000368300.9:c.768G>A MANE Select | ENSP00000357283.4:p.Val256= | |
| ENST00000496738.6:n.1143G>A | ||
| ENST00000504687.6:c.104G>A | ENSP00000426535.2:p.Trp35Ter | |
| ENST00000674518.1:c.*118G>A | ENSP00000502261.1:n.*118G>A | |
| ENST00000674600.1:c.*567G>A | ENSP00000501666.1:n.*567G>A | |
| ENST00000674720.1:c.768G>A | ENSP00000502798.1:p.Val256= | |
| ENST00000675431.1:n.461G>A | ||
| ENST00000675455.1:c.*568G>A | ENSP00000501795.1:n.*568G>A | |
| ENST00000675667.1:c.768G>A | ENSP00000501803.1:p.Val256= | |
| ENST00000675874.1:c.*239G>A | ENSP00000501851.1:n.*239G>A | |
| ENST00000675881.1:c.768G>A | ENSP00000501670.1:p.Val256= | |
| ENST00000675939.1:c.768G>A | ENSP00000502256.1:p.Val256= | |
| ENST00000675989.1:n.1143G>A | ||
| ENST00000676208.1:c.768G>A | ENSP00000502468.1:p.Val256= | |
| ENST00000676283.1:n.1143G>A | ||
| ENST00000676385.2:c.768G>A | ENSP00000502091.1:p.Val256= | |
| ENST00000676434.1:c.768G>A | ENSP00000501648.1:p.Val256= | |
| ENST00000677389.1:c.768G>A MANE Plus Clinical | ENSP00000503633.1:p.Val256= | |
| ENST00000347559.6:c.768G>A | ENSP00000292304.3:p.Val256= | |
| ENST00000361308.8:c.768G>A | ENSP00000355292.5:p.Val256= | |
| ENST00000368297.5:c.525G>A | ENSP00000357280.1:p.Val175= | |
| ENST00000368299.7:c.768G>A | ENSP00000357282.3:p.Val256= | |
| ENST00000368300.8:c.768G>A | ENSP00000357283.4:p.Val256= | |
| ENST00000368301.6:c.768G>A | ENSP00000357284.2:p.Val256= | |
| ENST00000448611.6:c.432G>A | ENSP00000395597.2:p.Val144= | |
| ENST00000473598.6:c.471G>A | ENSP00000421821.1:p.Val157= | |
| ENST00000496738.5:n.113G>A | ||
| ENST00000504687.5:c.519G>A | ENSP00000426535.1:p.Val173= | |
| ENST00000515459.5:c.*442G>A | ENSP00000424518.1:n.*442G>A | |
| ENST00000515824.1:n.129G>A | ||
| NM_001257374.2:c.432G>A | NP_001244303.1:p.Val144= | |
| NM_001282624.1:c.525G>A | NP_001269553.1:p.Val175= | |
| NM_001282625.1:c.768G>A | NP_001269554.1:p.Val256= | |
| NM_001282626.1:c.768G>A | NP_001269555.1:p.Val256= | |
| NM_005572.3:c.768G>A , LRG_254t1:c.768G>A | NP_005563.1:p.Val256= | |
| NM_170707.3:c.768G>A | NP_733821.1:p.Val256= | |
| NM_170708.3:c.768G>A | NP_733822.1:p.Val256= | |
| XM_011509533.1:c.432G>A | XP_011507835.1:p.Val144= | |
| XM_011509534.1:c.104G>A | XP_011507836.1:p.Trp35Ter | |
| XR_921781.1:n.1017G>A | ||
| XM_011509534.2:c.104G>A | XP_011507836.1:p.Trp35Ter | |
| XR_921781.2:n.1015G>A | ||
| NM_170707.4:c.768G>A MANE Select | NP_733821.1:p.Val256= | |
| NM_001257374.3:c.432G>A | NP_001244303.1:p.Val144= | |
| NM_001282626.2:c.768G>A | NP_001269555.1:p.Val256= | |
| NM_001282624.2:c.525G>A | NP_001269553.1:p.Val175= | |
| NM_001282625.2:c.768G>A | NP_001269554.1:p.Val256= | |
| NM_005572.4:c.768G>A MANE Plus Clinical | NP_005563.1:p.Val256= | |
| NM_170708.4:c.768G>A | NP_733822.1:p.Val256= |