Linked Data
ClinVar Variation Id:
320781
dbSNP Id:
rs772036783
ExAC:
16:84211339 G / A
gnomAD v2:
16-84211339-G-A
gnomAD v3:
16-84177733-G-A
gnomAD v4:
16-84177733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84177733G>A , CM000678.2:g.84177733G>A | GRCh38 |
| NC_000016.9:g.84211339G>A , CM000678.1:g.84211339G>A | GRCh37 |
| NC_000016.8:g.82768840G>A | NCBI36 |
| NG_021174.1:g.37475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.2070G>A MANE Select | ENSP00000367815.5:p.Pro690= | |
| ENST00000378553.9:c.2070G>A | ENSP00000367815.5:p.Pro690= | |
| ENST00000562024.1:n.542G>A | ||
| ENST00000563818.5:n.1747G>A | ||
| ENST00000564928.1:c.160-657G>A | ||
| ENST00000569735.1:c.465G>A | ENSP00000454960.1:p.Pro155= | |
| ENST00000570298.5:n.4523G>A | ||
| ENST00000623406.1:n.2506G>A | ||
| NM_178452.4:c.2070G>A | NP_848547.4:p.Pro690= | |
| XM_006721129.1:c.2076G>A | XP_006721192.1:p.Pro692= | |
| XM_011522850.1:c.2352G>A | XP_011521152.1:p.Pro784= | |
| XM_011522851.1:c.2346G>A | XP_011521153.1:p.Pro782= | |
| XM_011522852.1:c.2304G>A | XP_011521154.1:p.Pro768= | |
| XM_011522853.1:c.2211G>A | XP_011521155.1:p.Pro737= | |
| XM_011522854.1:c.2124G>A | XP_011521156.1:p.Pro708= | |
| XM_011522855.1:c.2118G>A | XP_011521157.1:p.Pro706= | |
| XM_011522856.1:c.2091G>A | XP_011521158.1:p.Pro697= | |
| XM_011522859.1:c.1596G>A | XP_011521161.1:p.Pro532= | |
| XM_011522860.1:c.1362G>A | XP_011521162.1:p.Pro454= | |
| NM_001318756.1:c.1362G>A | NP_001305685.1:p.Pro454= | |
| NM_178452.5:c.2070G>A | NP_848547.4:p.Pro690= | |
| XM_006721129.3:c.2076G>A | XP_006721192.1:p.Pro692= | |
| XM_011522853.3:c.2211G>A | XP_011521155.1:p.Pro737= | |
| XM_011522854.3:c.2124G>A | XP_011521156.1:p.Pro708= | |
| XM_011522855.3:c.2118G>A | XP_011521157.1:p.Pro706= | |
| XM_017022918.2:c.2163G>A | XP_016878407.1:p.Pro721= | |
| XM_017022919.1:c.1950G>A | XP_016878408.1:p.Pro650= | |
| XM_017022920.2:c.1455G>A | XP_016878409.1:p.Pro485= | |
| XM_017022921.2:c.1407G>A | XP_016878410.1:p.Pro469= | |
| XM_017022922.2:c.1314G>A | XP_016878411.1:p.Pro438= | |
| XR_001751829.2:n.2781G>A | ||
| XR_001751830.2:n.2775G>A | ||
| XR_001751831.2:n.2727G>A | ||
| XR_001751832.1:n.5329G>A | ||
| NM_178452.6:c.2070G>A MANE Select | NP_848547.4:p.Pro690= |