Linked Data
ClinVar Variation Id:
3017635
ClinVar RCV Id:
RCV003874234
dbSNP Id:
rs376322875
ExAC:
2:86267544 G / T
gnomAD v2:
2-86267544-G-T
gnomAD v3:
2-86040421-G-T
gnomAD v4:
2-86040421-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040421G>T , CM000664.2:g.86040421G>T | GRCh38 |
| NC_000002.11:g.86267544G>T , CM000664.1:g.86267544G>T | GRCh37 |
| NC_000002.10:g.86121055G>T | NCBI36 |
| NG_050742.2:g.70735C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3711C>A MANE Select | ENSP00000263857.6:p.Gly1237= | |
| ENST00000263857.10:c.3711C>A | ENSP00000263857.6:p.Gly1237= | |
| ENST00000409681.1:c.3711C>A | ENSP00000386300.1:p.Gly1237= | |
| ENST00000462078.1:n.99C>A | ||
| NM_015425.3:c.3711C>A | NP_056240.2:p.Gly1237= | |
| XM_006711983.2:c.3387C>A | XP_006712046.1:p.Gly1129= | |
| NM_015425.5:c.3711C>A | NP_056240.2:p.Gly1237= | |
| NM_015425.6:c.3711C>A MANE Select | NP_056240.2:p.Gly1237= |