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:
184844
dbSNP Id:
rs786201730
gnomAD v3:
10-87957918-C-T
gnomAD v4:
10-87957918-C-T
COSMIC:
COSM5118
ERepo:
CA000183/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957918C>T , CM000672.2:g.87957918C>T | GRCh38 |
| NC_000010.10:g.89717675C>T , CM000672.1:g.89717675C>T | GRCh37 |
| NC_000010.9:g.89707655C>T | NCBI36 |
| NG_007466.2:g.99480C>T , LRG_311:g.99480C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.700C>T | ENSP00000514759.2:p.Arg234Trp | |
| ENST00000710265.1:c.700C>T | ENSP00000518161.1:p.Arg234Trp | |
| ENST00000472832.3:c.700C>T | ENSP00000483066.2:p.Arg234Trp | |
| ENST00000688158.2:n.1435C>T | ||
| ENST00000688922.2:c.*530C>T | ENSP00000508742.2:n.*530C>T | |
| ENST00000700021.1:c.655C>T | ENSP00000514757.1:p.Arg219Trp | |
| ENST00000700022.1:c.*39C>T | ENSP00000514758.1:n.*39C>T | |
| ENST00000700023.1:n.1858C>T | ||
| ENST00000700024.1:n.2092C>T | ||
| ENST00000700025.1:n.1469C>T | ||
| ENST00000700026.1:n.337C>T | ||
| ENST00000700029.1:c.534C>T | ||
| ENST00000706954.1:c.700C>T | ENSP00000516674.1:p.Arg234Trp | |
| ENST00000706955.1:c.*735C>T | ENSP00000516675.1:n.*735C>T | |
| ENST00000686459.1:c.*286C>T | ENSP00000508909.1:n.*286C>T | |
| ENST00000688158.1:c.*811C>T | ENSP00000509254.1:n.*811C>T | |
| ENST00000688308.1:c.700C>T | ENSP00000508752.1:p.Arg234Trp | |
| ENST00000688922.1:c.621C>T | ||
| ENST00000693560.1:c.1219C>T | ENSP00000509861.1:p.Arg407Trp | |
| ENST00000371953.8:c.700C>T MANE Select | ENSP00000361021.3:p.Arg234Trp | |
| ENST00000371953.7:c.700C>T | ENSP00000361021.3:p.Arg234Trp | |
| ENST00000472832.2:c.127C>T | ENSP00000483066.1:p.Arg43Trp | |
| NM_000314.5:c.700C>T | NP_000305.3:p.Arg234Trp | |
| NM_000314.6:c.700C>T | NP_000305.3:p.Arg234Trp | |
| NM_001304717.2:c.1219C>T | NP_001291646.2:p.Arg407Trp | |
| NM_001304718.1:c.109C>T | NP_001291647.1:p.Arg37Trp | |
| XM_006717926.2:c.655C>T | XP_006717989.1:p.Arg219Trp | |
| XM_011539981.1:c.700C>T | XP_011538283.1:p.Arg234Trp | |
| XM_011539982.1:c.604C>T | XP_011538284.1:p.Arg202Trp | |
| XR_945791.1:n.1270C>T | ||
| NM_000314.7:c.700C>T | NP_000305.3:p.Arg234Trp | |
| NM_001304717.5:c.1219C>T | NP_001291646.4:p.Arg407Trp | |
| NM_001304718.2:c.109C>T | NP_001291647.1:p.Arg37Trp | |
| NM_000314.8:c.700C>T MANE Select | NP_000305.3:p.Arg234Trp |