Linked Data
dbSNP Id:
rs1672580575
gnomAD v4:
2-86040403-C-A
MyVariant Identifiers:
chr2:g.86267526C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040403C>A , CM000664.2:g.86040403C>A | GRCh38 |
| NC_000002.11:g.86267526C>A , CM000664.1:g.86267526C>A | GRCh37 |
| NC_000002.10:g.86121037C>A | NCBI36 |
| NG_050742.2:g.70753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3729G>T MANE Select | ENSP00000263857.6:p.Leu1243= | |
| ENST00000263857.10:c.3729G>T | ENSP00000263857.6:p.Leu1243= | |
| ENST00000409681.1:c.3729G>T | ENSP00000386300.1:p.Leu1243= | |
| ENST00000462078.1:n.117G>T | ||
| NM_015425.3:c.3729G>T | NP_056240.2:p.Leu1243= | |
| XM_006711983.2:c.3405G>T | XP_006712046.1:p.Leu1135= | |
| NM_015425.5:c.3729G>T | NP_056240.2:p.Leu1243= | |
| NM_015425.6:c.3729G>T MANE Select | NP_056240.2:p.Leu1243= |