Linked Data
ClinVar Variation Id:
440521
ClinVar RCV Id:
RCV000508761
dbSNP Id:
rs763118165
ExAC:
2:21229083 C / T
gnomAD v2:
2-21229083-C-T
gnomAD v3:
2-21006211-C-T
gnomAD v4:
2-21006211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21006211C>T , CM000664.2:g.21006211C>T | GRCh38 |
| NC_000002.11:g.21229083C>T , CM000664.1:g.21229083C>T | GRCh37 |
| NC_000002.10:g.21082588C>T | NCBI36 |
| NG_011793.1:g.42863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.10657G>A MANE Select | ENSP00000233242.1:p.Glu3553Lys | |
| ENST00000616098.4:c.10657G>A | ENSP00000477990.1:p.Glu3553Lys | |
| NM_000384.2:c.10657G>A | NP_000375.2:p.Glu3553Lys | |
| XM_011532809.1:c.5869+4522G>A | XP_011531111.1:n.5869+4522G>A | |
| NM_000384.3:c.10657G>A MANE Select | NP_000375.3:p.Glu3553Lys |