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:
2664451
ClinVar RCV Id:
RCV003447411
dbSNP Id:
rs886039229
PubMed:
PMID:20945553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74378046T>C , CM000664.2:g.74378046T>C | GRCh38 |
| NC_000002.11:g.74605173T>C , CM000664.1:g.74605173T>C | GRCh37 |
| NC_000002.10:g.74458681T>C | NCBI36 |
| NG_008735.2:g.19042A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361874.8:c.233A>G | ENSP00000354791.4:p.Tyr78Cys | |
| ENST00000628224.3:c.233A>G MANE Select | ENSP00000487279.2:p.Tyr78Cys | |
| ENST00000680606.1:c.182A>G | ENSP00000505612.1:p.Tyr61Cys | |
| ENST00000361874.7:c.233A>G | ENSP00000354791.3:p.Tyr78Cys | |
| ENST00000394003.7:c.233A>G | ENSP00000377571.3:p.Tyr78Cys | |
| ENST00000409240.5:c.182A>G | ENSP00000386406.1:p.Tyr61Cys | |
| ENST00000409567.7:c.233A>G | ENSP00000386843.3:p.Tyr78Cys | |
| ENST00000409868.5:c.182A>G | ENSP00000387327.1:p.Tyr61Cys | |
| ENST00000413111.5:c.182A>G | ENSP00000413268.1:p.Tyr61Cys | |
| ENST00000417090.1:c.245A>G | ENSP00000402509.1:p.Tyr82Cys | |
| ENST00000421392.1:c.182A>G | ENSP00000409363.1:p.Tyr61Cys | |
| ENST00000434055.5:c.182A>G | ENSP00000416711.1:p.Tyr61Cys | |
| ENST00000437375.1:c.182A>G | ENSP00000395312.1:p.Tyr61Cys | |
| ENST00000440727.1:c.182A>G | ENSP00000400059.1:p.Tyr61Cys | |
| ENST00000454119.5:c.182A>G | ENSP00000404038.1:p.Tyr61Cys | |
| ENST00000458655.5:c.254A>G | ENSP00000414315.1:p.Tyr85Cys | |
| ENST00000628224.2:c.182A>G | ENSP00000487279.1:p.Tyr61Cys | |
| NM_001135040.2:c.233A>G | NP_001128512.1:p.Tyr78Cys | |
| NM_001190836.1:c.182A>G | NP_001177765.1:p.Tyr61Cys | |
| NM_001190837.1:c.233A>G | NP_001177766.1:p.Tyr78Cys | |
| NM_004082.4:c.233A>G | NP_004073.2:p.Tyr78Cys | |
| NR_033935.1:n.494A>G | ||
| NM_001135040.3:c.233A>G | NP_001128512.1:p.Tyr78Cys | |
| NM_001190836.2:c.182A>G | NP_001177765.1:p.Tyr61Cys | |
| NM_001190837.2:c.233A>G | NP_001177766.1:p.Tyr78Cys | |
| NM_001378991.1:c.182A>G | NP_001365920.1:p.Tyr61Cys | |
| NM_001378992.1:c.182A>G | NP_001365921.1:p.Tyr61Cys | |
| NM_004082.5:c.233A>G MANE Select | NP_004073.2:p.Tyr78Cys | |
| NR_033935.2:n.273A>G |