Linked Data
dbSNP Id:
rs1703059915
gnomAD v3:
3-81535266-A-C
gnomAD v4:
3-81535266-A-C
MyVariant Identifiers:
chr3:g.81584417A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535266A>C , CM000665.2:g.81535266A>C | GRCh38 |
| NC_000003.11:g.81584417A>C , CM000665.1:g.81584417A>C | GRCh37 |
| NC_000003.10:g.81667107A>C | NCBI36 |
| NG_011810.1:g.231535T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1863T>G MANE Select | ENSP00000410833.2:p.Leu621= | |
| ENST00000429644.6:c.1863T>G | ENSP00000410833.2:p.Leu621= | |
| ENST00000484687.1:n.264T>G | ||
| ENST00000489715.1:c.1740T>G | ENSP00000419638.1:p.Leu580= | |
| NM_000158.3:c.1863T>G | NP_000149.3:p.Leu621= | |
| NM_000158.4:c.1863T>G MANE Select | NP_000149.4:p.Leu621= |