Linked Data
ClinVar Variation Id:
506590
dbSNP Id:
rs183596892
ExAC:
3:3170791 C / G
gnomAD v2:
3-3170791-C-G
gnomAD v3:
3-3129107-C-G
gnomAD v4:
3-3129107-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3129107C>G , CM000665.2:g.3129107C>G | GRCh38 |
| NC_000003.11:g.3170791C>G , CM000665.1:g.3170791C>G | GRCh37 |
| NC_000003.10:g.3145791C>G | NCBI36 |
| NG_041800.1:g.7192C>G | |
| NG_041800.2:g.7192C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465998.2:c.67C>G | ENSP00000513702.1:p.Pro23Ala | |
| ENST00000698406.1:c.67C>G | ENSP00000513700.1:p.Pro23Ala | |
| ENST00000698407.1:n.136C>G | ||
| ENST00000698408.1:c.67C>G | ENSP00000513701.1:p.Pro23Ala | |
| ENST00000698409.1:n.134C>G | ||
| ENST00000698410.1:c.67C>G | ENSP00000513703.1:p.Pro23Ala | |
| ENST00000698411.1:c.67C>G | ENSP00000513704.1:p.Pro23Ala | |
| ENST00000698412.1:c.67C>G | ENSP00000513705.1:p.Pro23Ala | |
| ENST00000698413.1:c.67C>G | ENSP00000513706.1:p.Pro23Ala | |
| ENST00000698414.1:c.67C>G | ENSP00000513707.1:p.Pro23Ala | |
| ENST00000251607.11:c.67C>G MANE Select | ENSP00000251607.6:p.Pro23Ala | |
| ENST00000339437.11:c.67C>G | ENSP00000342985.6:p.Pro23Ala | |
| ENST00000397779.3:c.67C>G | ENSP00000380881.3:p.Pro23Ala | |
| ENST00000650755.1:c.67C>G | ENSP00000499122.1:p.Pro23Ala | |
| ENST00000650839.1:c.67C>G | ENSP00000498970.1:p.Pro23Ala | |
| ENST00000650989.1:n.28+2117C>G | ||
| ENST00000651093.1:c.67C>G | ENSP00000498942.1:p.Pro23Ala | |
| ENST00000651316.1:c.67C>G | ENSP00000498787.1:p.Pro23Ala | |
| ENST00000651352.1:c.67C>G | ENSP00000498449.1:p.Pro23Ala | |
| ENST00000651591.1:c.67C>G | ENSP00000498240.1:p.Pro23Ala | |
| ENST00000251607.10:c.67C>G | ENSP00000251607.6:p.Pro23Ala | |
| ENST00000280591.10:c.67C>G | ENSP00000280591.6:p.Pro23Ala | |
| ENST00000339437.10:c.67C>G | ENSP00000342985.6:p.Pro23Ala | |
| ENST00000397779.2:c.67C>G | ENSP00000380881.2:p.Pro23Ala | |
| ENST00000402675.5:c.67C>G | ENSP00000385745.1:p.Pro23Ala | |
| ENST00000413000.1:c.67C>G | ENSP00000388615.1:p.Pro23Ala | |
| ENST00000420393.5:c.67C>G | ENSP00000400394.1:p.Pro23Ala | |
| ENST00000434583.5:c.67C>G | ENSP00000415100.1:p.Pro23Ala | |
| ENST00000465998.1:n.131C>G | ||
| ENST00000469632.1:n.323C>G | ||
| NM_001302946.1:c.67C>G | NP_001289875.1:p.Leu23Val | |
| NM_182916.2:c.67C>G | NP_886552.2:p.Leu23Val | |
| XM_005265196.1:c.67C>G | XP_005265253.1:p.Pro23Ala | |
| XM_011533776.1:c.67C>G | XP_011532078.1:p.Pro23Ala | |
| XM_011533777.1:c.67C>G | XP_011532079.1:p.Pro23Ala | |
| XM_011533778.1:c.67C>G | XP_011532080.1:p.Pro23Ala | |
| XR_940445.1:n.169C>G | ||
| XR_940446.1:n.169C>G | ||
| XM_011533776.3:c.67C>G | XP_011532078.1:p.Pro23Ala | |
| XM_011533777.2:c.67C>G | XP_011532079.1:p.Pro23Ala | |
| XM_011533778.3:c.67C>G | XP_011532080.1:p.Pro23Ala | |
| XR_001740168.2:n.148C>G | ||
| XR_001740169.2:n.148C>G | ||
| XR_002959672.1:n.1941G>C | ||
| XR_940445.3:n.148C>G | ||
| XR_940446.3:n.148C>G | ||
| NM_001302946.2:c.67C>G | NP_001289875.2:p.Pro23Ala | |
| NM_001367321.1:c.67C>G | NP_001354250.1:p.Pro23Ala | |
| NM_001367322.1:c.67C>G | NP_001354251.1:p.Pro23Ala | |
| NM_001367323.1:c.67C>G | NP_001354252.1:p.Pro23Ala | |
| NM_182916.3:c.67C>G MANE Select | NP_886552.3:p.Pro23Ala | |
| NR_159934.1:n.145C>G | ||
| NR_159935.1:n.145C>G | ||
| NR_159936.1:n.145C>G | ||
| NR_159937.1:n.1173C>G | ||
| NR_159938.1:n.145C>G | ||
| NR_159939.1:n.145C>G | ||
| NR_159940.1:n.145C>G | ||
| NR_159941.1:n.1173C>G | ||
| NR_159942.1:n.145C>G | ||
| NR_159943.1:n.1173C>G | ||
| NR_159944.1:n.444C>G | ||
| NR_159942.2:n.145C>G | ||
| NR_159943.2:n.1173C>G | ||
| NR_159944.2:n.444C>G | ||
| NR_159942.3:n.145C>G | ||
| NR_159943.3:n.1173C>G | ||
| NR_159944.3:n.444C>G |