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:
187864
ClinVar RCV Id:
RCV000167584
dbSNP Id:
rs786204004
gnomAD v4:
2-190213017-C-T
PubMed:
PMID:24299452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190213017C>T , CM000664.2:g.190213017C>T | GRCh38 |
| NC_000002.11:g.191077743C>T , CM000664.1:g.191077743C>T | GRCh37 |
| NC_000002.10:g.190785988C>T | NCBI36 |
| NG_017062.1:g.112029G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359678.10:c.950G>A MANE Select | ENSP00000352706.5:p.Gly317Glu | |
| ENST00000359678.9:c.950G>A | ENSP00000352706.5:p.Gly317Glu | |
| ENST00000392332.7:c.950G>A | ENSP00000376144.3:p.Gly317Glu | |
| ENST00000409820.2:c.290G>A | ENSP00000387098.2:p.Gly97Glu | |
| ENST00000410045.5:c.281G>A | ENSP00000386274.1:p.Gly94Glu | |
| ENST00000416732.5:c.203G>A | ENSP00000399263.1:p.Gly68Glu | |
| ENST00000486981.1:n.219G>A | ||
| ENST00000489147.1:n.3093G>A | ||
| ENST00000622246.4:c.932G>A | ENSP00000481055.1:p.Gly311Glu | |
| NM_014362.3:c.950G>A | NP_055177.2:p.Gly317Glu | |
| NM_198047.2:c.950G>A | NP_932164.1:p.Gly317Glu | |
| XM_011510953.1:c.950G>A | XP_011509255.1:p.Gly317Glu | |
| XM_011510954.1:c.452G>A | XP_011509256.1:p.Gly151Glu | |
| XR_922903.1:n.1194G>A | ||
| XM_011510953.2:c.950G>A | XP_011509255.1:p.Gly317Glu | |
| XR_922903.2:n.1013G>A | ||
| NM_014362.4:c.950G>A MANE Select | NP_055177.2:p.Gly317Glu | |
| NM_198047.3:c.950G>A | NP_932164.1:p.Gly317Glu |