Linked Data
dbSNP Id:
rs761220093
ExAC:
3:3179101 C / G
gnomAD v2:
3-3179101-C-G
gnomAD v4:
3-3137417-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3137417C>G , CM000665.2:g.3137417C>G | GRCh38 |
| NC_000003.11:g.3179101C>G , CM000665.1:g.3179101C>G | GRCh37 |
| NC_000003.10:g.3154101C>G | NCBI36 |
| NG_041800.1:g.15502C>G | |
| NG_041800.2:g.15502C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698406.1:c.306C>G | ENSP00000513700.1:p.Asn102Lys | |
| ENST00000698407.1:n.935C>G | ||
| ENST00000698408.1:c.306C>G | ENSP00000513701.1:p.Asn102Lys | |
| ENST00000698409.1:n.373C>G | ||
| ENST00000698410.1:c.306C>G | ENSP00000513703.1:p.Asn102Lys | |
| ENST00000698412.1:c.306C>G | ENSP00000513705.1:p.Asn102Lys | |
| ENST00000698413.1:c.423C>G | ENSP00000513706.1:p.Asn141Lys | |
| ENST00000698414.1:c.423C>G | ENSP00000513707.1:p.Asn141Lys | |
| ENST00000698415.1:n.1667C>G | ||
| ENST00000251607.11:c.306C>G MANE Select | ENSP00000251607.6:p.Asn102Lys | |
| ENST00000397779.3:c.306C>G | ENSP00000380881.3:p.Asn102Lys | |
| ENST00000650755.1:c.149-3093C>G | ENSP00000499122.1:n.149-3093C>G | |
| ENST00000650814.1:c.62C>G | ||
| ENST00000650839.1:c.306C>G | ENSP00000498970.1:p.Asn102Lys | |
| ENST00000650989.1:n.186C>G | ||
| ENST00000651093.1:c.306C>G | ENSP00000498942.1:p.Asn102Lys | |
| ENST00000651316.1:c.306C>G | ENSP00000498787.1:p.Asn102Lys | |
| ENST00000651352.1:c.306C>G | ENSP00000498449.1:p.Asn102Lys | |
| ENST00000651591.1:c.*230C>G | ENSP00000498240.1:n.*230C>G | |
| ENST00000251607.10:c.306C>G | ENSP00000251607.6:p.Asn102Lys | |
| ENST00000280591.10:c.306C>G | ENSP00000280591.6:p.Asn102Lys | |
| ENST00000434583.5:c.306C>G | ENSP00000415100.1:p.Asn102Lys | |
| ENST00000482311.1:n.192C>G | ||
| NM_001302946.1:c.306C>G | NP_001289875.1:p.Asn102Lys | |
| NM_182916.2:c.306C>G | NP_886552.2:p.Asn102Lys | |
| XM_005265196.1:c.306C>G | XP_005265253.1:p.Asn102Lys | |
| XM_011533776.1:c.306C>G | XP_011532078.1:p.Asn102Lys | |
| XM_011533777.1:c.306C>G | XP_011532079.1:p.Asn102Lys | |
| XM_011533778.1:c.306C>G | XP_011532080.1:p.Asn102Lys | |
| XR_940445.1:n.408C>G | ||
| XR_940446.1:n.408C>G | ||
| XM_011533776.3:c.306C>G | XP_011532078.1:p.Asn102Lys | |
| XM_011533777.2:c.306C>G | XP_011532079.1:p.Asn102Lys | |
| XM_011533778.3:c.306C>G | XP_011532080.1:p.Asn102Lys | |
| XR_001740168.2:n.387C>G | ||
| XR_001740169.2:n.387C>G | ||
| XR_940445.3:n.387C>G | ||
| XR_940446.3:n.387C>G | ||
| NM_001302946.2:c.306C>G | NP_001289875.2:p.Asn102Lys | |
| NM_001367321.1:c.306C>G | NP_001354250.1:p.Asn102Lys | |
| NM_001367322.1:c.306C>G | NP_001354251.1:p.Asn102Lys | |
| NM_001367323.1:c.306C>G | NP_001354252.1:p.Asn102Lys | |
| NM_182916.3:c.306C>G MANE Select | NP_886552.3:p.Asn102Lys | |
| NR_159934.1:n.384C>G | ||
| NR_159935.1:n.384C>G | ||
| NR_159936.1:n.384C>G | ||
| NR_159937.1:n.1412C>G | ||
| NR_159938.1:n.384C>G | ||
| NR_159939.1:n.384C>G | ||
| NR_159940.1:n.384C>G | ||
| NR_159941.1:n.1412C>G |