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:
1794579
ClinVar RCV Id:
RCV002437298
dbSNP Id:
rs776350132
ExAC:
7:117243601 C / T
gnomAD v2:
7-117243601-C-T
gnomAD v4:
7-117603547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603547C>T , CM000669.2:g.117603547C>T | GRCh38 |
| NC_000007.13:g.117243601C>T , CM000669.1:g.117243601C>T | GRCh37 |
| NC_000007.12:g.117030837C>T | NCBI36 |
| NG_016465.4:g.142764C>T , LRG_663:g.142764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2673C>T | ENSP00000497673.2:p.Asp891= | |
| ENST00000647978.2:c.*2387C>T | ENSP00000497658.1:n.*2387C>T | |
| ENST00000649781.2:c.2490C>T | ENSP00000497203.1:p.Asp830= | |
| ENST00000685018.2:c.2673C>T | ENSP00000510194.2:p.Asp891= | |
| ENST00000687278.2:c.2673C>T | ENSP00000509593.2:p.Asp891= | |
| ENST00000699585.1:c.2673C>T | ENSP00000514456.1:p.Asp891= | |
| ENST00000699598.1:c.2673C>T | ENSP00000514467.1:p.Asp891= | |
| ENST00000699599.1:c.2673C>T | ENSP00000514468.1:p.Asp891= | |
| ENST00000699600.1:c.2673C>T | ENSP00000514469.1:p.Asp891= | |
| ENST00000699601.1:c.*973C>T | ENSP00000514470.1:n.*973C>T | |
| ENST00000699602.1:c.2673C>T | ENSP00000514471.1:p.Asp891= | |
| ENST00000699604.1:c.*2497C>T | ENSP00000514472.1:n.*2497C>T | |
| ENST00000699605.1:c.2247C>T | ENSP00000514473.1:p.Asp749= | |
| ENST00000687278.1:c.264C>T | ENSP00000509593.1:p.Asp88= | |
| ENST00000003084.11:c.2673C>T MANE Select | ENSP00000003084.6:p.Asp891= | |
| ENST00000647720.1:c.323C>T | ||
| ENST00000648260.1:c.1455C>T | ENSP00000497957.1:p.Asp485= | |
| ENST00000649406.1:c.2490C>T | ENSP00000497965.1:p.Asp830= | |
| ENST00000649781.1:c.2490C>T | ENSP00000497203.1:p.Asp830= | |
| ENST00000003084.10:c.2673C>T | ENSP00000003084.6:p.Asp891= | |
| ENST00000426809.5:c.2583C>T | ENSP00000389119.1:p.Asp861= | |
| NM_000492.3:c.2673C>T , LRG_663t1:c.2673C>T | NP_000483.3:p.Asp891= | |
| XM_011515751.1:c.2763C>T | XP_011514053.1:p.Asp921= | |
| XM_011515752.1:c.2763C>T | XP_011514054.1:p.Asp921= | |
| XM_011515753.1:c.2430C>T | XP_011514055.1:p.Asp810= | |
| XM_011515754.1:c.2430C>T | XP_011514056.1:p.Asp810= | |
| NM_000492.4:c.2673C>T MANE Select | NP_000483.3:p.Asp891= |