Linked Data
ClinVar Variation Id:
161683
ClinVar RCV Id:
RCV000149219
dbSNP Id:
rs193921076
ExAC:
11:46831334 T / C
gnomAD v2:
11-46831334-T-C
gnomAD v4:
11-46809784-T-C
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46809784T>C , CM000673.2:g.46809784T>C | GRCh38 |
| NC_000011.9:g.46831334T>C , CM000673.1:g.46831334T>C | GRCh37 |
| NC_000011.8:g.46787910T>C | NCBI36 |
| NG_029924.1:g.41526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529230.6:c.721A>G MANE Select | ENSP00000432768.1:p.Lys241Glu | |
| ENST00000312055.9:c.721A>G | ENSP00000310227.5:p.Lys241Glu | |
| ENST00000354558.7:c.721A>G | ENSP00000346566.3:p.Lys241Glu | |
| ENST00000529230.5:c.721A>G | ENSP00000432768.1:p.Lys241Glu | |
| NM_001008938.3:c.721A>G | NP_001008938.1:p.Lys241Glu | |
| NM_014756.3:c.721A>G | NP_055571.2:p.Lys241Glu | |
| NM_001008938.4:c.721A>G MANE Select | NP_001008938.1:p.Lys241Glu | |
| NM_014756.4:c.721A>G | NP_055571.2:p.Lys241Glu |