Linked Data
ClinVar Variation Id:
2791
dbSNP Id:
rs137852893
ExAC:
3:81692140 G / A
gnomAD v2:
3-81692140-G-A
gnomAD v4:
3-81642989-G-A
PubMed:
PMID:16528737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642989G>A , CM000665.2:g.81642989G>A | GRCh38 |
| NC_000003.11:g.81692140G>A , CM000665.1:g.81692140G>A | GRCh37 |
| NC_000003.10:g.81774830G>A | NCBI36 |
| NG_011810.1:g.123812C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.784C>T MANE Select | ENSP00000410833.2:p.Arg262Cys | |
| ENST00000429644.6:c.784C>T | ENSP00000410833.2:p.Arg262Cys | |
| ENST00000489715.1:c.661C>T | ENSP00000419638.1:p.Arg221Cys | |
| ENST00000498468.1:n.334C>T | ||
| NM_000158.3:c.784C>T | NP_000149.3:p.Arg262Cys | |
| NM_000158.4:c.784C>T MANE Select | NP_000149.4:p.Arg262Cys |