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:
53674
ClinVar RCV Id:
RCV000577785
dbSNP Id:
rs397508514
PubMed:
PMID:15638824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611630G>A , CM000669.2:g.117611630G>A | GRCh38 |
| NC_000007.13:g.117251684G>A , CM000669.1:g.117251684G>A | GRCh37 |
| NC_000007.12:g.117038920G>A | NCBI36 |
| NG_016465.4:g.150847G>A , LRG_663:g.150847G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3189G>A | ENSP00000497673.2:p.Trp1063Ter | |
| ENST00000647978.2:c.*2903G>A | ENSP00000497658.1:n.*2903G>A | |
| ENST00000649781.2:c.3006G>A | ENSP00000497203.1:p.Trp1002Ter | |
| ENST00000685018.2:c.3189G>A | ENSP00000510194.2:p.Trp1063Ter | |
| ENST00000687278.2:c.3189G>A | ENSP00000509593.2:p.Trp1063Ter | |
| ENST00000699585.1:c.3189G>A | ENSP00000514456.1:p.Trp1063Ter | |
| ENST00000699598.1:c.3189G>A | ENSP00000514467.1:p.Trp1063Ter | |
| ENST00000699599.1:c.3189G>A | ENSP00000514468.1:p.Trp1063Ter | |
| ENST00000699600.1:c.3189G>A | ENSP00000514469.1:p.Trp1063Ter | |
| ENST00000699601.1:c.*1489G>A | ENSP00000514470.1:n.*1489G>A | |
| ENST00000699602.1:c.3189G>A | ENSP00000514471.1:p.Trp1063Ter | |
| ENST00000699604.1:c.*3013G>A | ENSP00000514472.1:n.*3013G>A | |
| ENST00000699605.1:c.2763G>A | ENSP00000514473.1:p.Trp921Ter | |
| ENST00000687278.1:c.780G>A | ENSP00000509593.1:p.Trp260Ter | |
| ENST00000003084.11:c.3189G>A MANE Select | ENSP00000003084.6:p.Trp1063Ter | |
| ENST00000647720.1:c.839G>A | ||
| ENST00000648260.1:c.1971G>A | ENSP00000497957.1:p.Trp657Ter | |
| ENST00000649406.1:c.3006G>A | ENSP00000497965.1:p.Trp1002Ter | |
| ENST00000649781.1:c.3006G>A | ENSP00000497203.1:p.Trp1002Ter | |
| ENST00000003084.10:c.3189G>A | ENSP00000003084.6:p.Trp1063Ter | |
| ENST00000426809.5:c.3099G>A | ENSP00000389119.1:p.Trp1033Ter | |
| ENST00000468795.1:c.14G>A | ||
| NM_000492.3:c.3189G>A , LRG_663t1:c.3189G>A | NP_000483.3:p.Trp1063Ter | |
| XM_011515751.1:c.3279G>A | XP_011514053.1:p.Trp1093Ter | |
| XM_011515752.1:c.3279G>A | XP_011514054.1:p.Trp1093Ter | |
| XM_011515753.1:c.2946G>A | XP_011514055.1:p.Trp982Ter | |
| XM_011515754.1:c.2946G>A | XP_011514056.1:p.Trp982Ter | |
| NM_000492.4:c.3189G>A MANE Select | NP_000483.3:p.Trp1063Ter |