WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
140594
ClinVar RCV Id:
RCV000128809
dbSNP Id:
rs587777553
gnomAD v4:
17-81869230-G-A
COSMIC:
COSM2805607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81869230G>A , CM000679.2:g.81869230G>A | GRCh38 |
| NC_000017.10:g.79827106G>A , CM000679.1:g.79827106G>A | GRCh37 |
| NC_000017.9:g.77420395G>A | NCBI36 |
| NG_034210.1:g.7177C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269321.12:c.358C>T MANE Select | ENSP00000269321.7:p.Arg120Ter | |
| ENST00000269321.11:c.358C>T | ENSP00000269321.7:p.Arg120Ter | |
| ENST00000400721.8:c.358C>T | ENSP00000383556.4:p.Arg120Ter | |
| ENST00000541078.6:c.358C>T | ENSP00000441348.2:p.Arg120Ter | |
| ENST00000578351.1:c.*2C>T | ENSP00000462323.1:n.*2C>T | |
| ENST00000579121.5:c.358C>T | ENSP00000462960.1:p.Arg120Ter | |
| ENST00000580033.5:c.*2C>T | ENSP00000463530.1:n.*2C>T | |
| ENST00000580685.5:c.358C>T | ENSP00000464205.1:p.Arg120Ter | |
| ENST00000581876.5:c.191-155C>T | ENSP00000461956.1:n.191-155C>T | |
| ENST00000582984.5:n.560C>T | ||
| ENST00000583111.5:n.510C>T | ||
| ENST00000583791.1:n.222C>T | ||
| ENST00000583868.5:c.358C>T | ENSP00000462209.1:p.Arg120Ter | |
| ENST00000584461.5:c.358C>T | ENSP00000463939.1:p.Arg120Ter | |
| NM_001185077.2:c.358C>T | NP_001172006.1:p.Arg120Ter | |
| NM_001185078.2:c.358C>T | NP_001172007.1:p.Arg120Ter | |
| NM_001301240.1:c.358C>T | NP_001288169.1:p.Arg120Ter | |
| NM_001301241.1:c.358C>T | NP_001288170.1:p.Arg120Ter | |
| NM_001301242.1:c.358C>T | NP_001288171.1:p.Arg120Ter | |
| NM_001301243.1:c.493C>T | NP_001288172.1:p.Arg165Ter | |
| NM_004309.5:c.358C>T | NP_004300.1:p.Arg120Ter | |
| NR_125441.1:n.417C>T | ||
| XM_011523574.1:c.493C>T | XP_011521876.1:p.Arg165Ter | |
| NM_004309.6:c.358C>T MANE Select | NP_004300.1:p.Arg120Ter | |
| NM_001185077.3:c.358C>T | NP_001172006.1:p.Arg120Ter | |
| NM_001185078.3:c.358C>T | NP_001172007.1:p.Arg120Ter | |
| NM_001301240.2:c.358C>T | NP_001288169.1:p.Arg120Ter | |
| NM_001301241.2:c.358C>T | NP_001288170.1:p.Arg120Ter | |
| NM_001301242.2:c.358C>T | NP_001288171.1:p.Arg120Ter | |
| NM_001301243.2:c.493C>T | NP_001288172.1:p.Arg165Ter | |
| NR_125441.2:n.348C>T |