Linked Data
dbSNP Id:
rs778311858
ExAC:
3:8787421 G / A
gnomAD v2:
3-8787421-G-A
gnomAD v3:
3-8745735-G-A
gnomAD v4:
3-8745735-G-A
COSMIC:
COSM3597830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745735G>A , CM000665.2:g.8745735G>A | GRCh38 |
| NC_000003.11:g.8787421G>A , CM000665.1:g.8787421G>A | GRCh37 |
| NC_000003.10:g.8762421G>A | NCBI36 |
| NG_008797.2:g.16926G>A , LRG_329:g.16926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.324G>A MANE Select | ENSP00000341940.2:p.Lys108= | |
| ENST00000343849.2:c.324G>A | ENSP00000341940.2:p.Lys108= | |
| ENST00000397368.2:c.324G>A | ENSP00000380525.2:p.Lys108= | |
| ENST00000472766.1:n.155+11745G>A | ||
| NM_001234.4:c.324G>A | NP_001225.1:p.Lys108= | |
| NM_033337.2:c.324G>A , LRG_329t1:c.324G>A | NP_203123.1:p.Lys108= | |
| NM_001234.5:c.324G>A | NP_001225.1:p.Lys108= | |
| NM_033337.3:c.324G>A MANE Select | NP_203123.1:p.Lys108= |