Linked Data
ClinVar Variation Id:
137869
dbSNP Id:
rs34536443
ExAC:
19:10463118 G / C
gnomAD v2:
19-10463118-G-C
gnomAD v3:
19-10352442-G-C
gnomAD v4:
19-10352442-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352442G>C , CM000681.2:g.10352442G>C | GRCh38 |
| NC_000019.9:g.10463118G>C , CM000681.1:g.10463118G>C | GRCh37 |
| NC_000019.8:g.10324118G>C | NCBI36 |
| NG_007872.1:g.33131C>G , LRG_121:g.33131C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*1659C>G | ENSP00000514307.1:n.*1659C>G | |
| ENST00000525976.6:c.3310C>G | ENSP00000434831.2:p.Pro1104Ala | |
| ENST00000527481.3:c.*80C>G | ENSP00000466340.2:n.*80C>G | |
| ENST00000529370.6:n.4686C>G | ||
| ENST00000529739.2:n.4119C>G | ||
| ENST00000530829.2:c.*2861C>G | ENSP00000436826.2:n.*2861C>G | |
| ENST00000531836.6:c.3310C>G | ENSP00000436175.2:p.Pro1104Ala | |
| ENST00000533334.2:c.*1242+484C>G | ENSP00000432320.2:n.*1242+484C>G | |
| ENST00000534228.2:n.5054+484C>G | ||
| ENST00000699354.1:n.1412C>G | ||
| ENST00000699355.1:c.*2810C>G | ENSP00000514328.1:n.*2810C>G | |
| ENST00000699356.1:n.4119C>G | ||
| ENST00000699357.1:n.5164C>G | ||
| ENST00000699358.1:c.3200+484C>G | ENSP00000514329.1:n.3200+484C>G | |
| ENST00000699359.1:c.484C>G | ||
| ENST00000699360.1:c.3268C>G | ENSP00000514331.1:p.Pro1090Ala | |
| ENST00000699361.1:n.344C>G | ||
| ENST00000699362.1:c.206C>G | ENSP00000514332.1:n.206C>G | |
| ENST00000699363.1:c.206C>G | ENSP00000514333.1:n.206C>G | |
| ENST00000699364.1:n.310C>G | ||
| ENST00000699365.1:c.379C>G | ENSP00000514334.1:p.Pro127Ala | |
| ENST00000699366.1:n.111+1372C>G | ||
| ENST00000699367.1:n.112-1280C>G | ||
| ENST00000699368.1:c.797C>G | ENSP00000514335.1:n.797C>G | |
| ENST00000525621.6:c.3310C>G MANE Select | ENSP00000431885.1:p.Pro1104Ala | |
| ENST00000264818.10:c.3310C>G | ENSP00000264818.6:p.Pro1104Ala | |
| ENST00000524462.5:c.2755C>G | ENSP00000433203.1:p.Pro919Ala | |
| ENST00000525621.5:c.3310C>G | ENSP00000431885.1:p.Pro1104Ala | |
| ENST00000525976.5:c.51C>G | ||
| ENST00000527481.2:c.487C>G | ||
| ENST00000529422.1:n.116+580C>G | ||
| ENST00000529739.1:c.379C>G | ENSP00000436155.1:p.Pro127Ala | |
| ENST00000530220.1:n.331+484C>G | ||
| ENST00000530560.5:c.338-1474C>G | ENSP00000465291.1:n.338-1474C>G | |
| ENST00000592137.1:n.464C>G | ||
| NM_003331.4:c.3310C>G , LRG_121t1:c.3310C>G | NP_003322.3:p.Pro1104Ala | |
| XM_011528245.1:c.3310C>G | XP_011526547.1:p.Pro1104Ala | |
| XM_011528246.1:c.3013C>G | XP_011526548.1:p.Pro1005Ala | |
| XM_011528247.1:c.3013C>G | XP_011526549.1:p.Pro1005Ala | |
| XM_011528248.1:c.3200+484C>G | XP_011526550.1:n.3200+484C>G | |
| XM_011528249.1:c.1984C>G | XP_011526551.1:p.Pro662Ala | |
| XM_011528251.1:c.1567C>G | XP_011526553.1:p.Pro523Ala | |
| XM_011528246.3:c.3013C>G | XP_011526548.1:p.Pro1005Ala | |
| XM_011528249.2:c.1984C>G | XP_011526551.1:p.Pro662Ala | |
| XR_001753750.1:n.3357+484C>G | ||
| XR_001753751.1:n.3862C>G | ||
| XR_002958353.1:n.4788C>G | ||
| NM_003331.5:c.3310C>G MANE Select | NP_003322.3:p.Pro1104Ala | |
| NM_001385197.1:c.3310C>G | NP_001372126.1:p.Pro1104Ala | |
| NM_001385198.1:c.3168+516C>G | NP_001372127.1:n.3168+516C>G | |
| NM_001385199.1:c.3124C>G | NP_001372128.1:p.Pro1042Ala | |
| NM_001385200.1:c.3307C>G | NP_001372129.1:p.Pro1103Ala | |
| NM_001385201.1:c.3112C>G | NP_001372130.1:p.Pro1038Ala | |
| NM_001385202.1:c.3226C>G | NP_001372131.1:p.Pro1076Ala | |
| NM_001385203.1:c.3391C>G | NP_001372132.1:p.Pro1131Ala | |
| NM_001385204.1:c.3520C>G | NP_001372133.1:p.Pro1174Ala | |
| NM_001385205.1:c.3220C>G | NP_001372134.1:p.Pro1074Ala | |
| NM_001385206.1:c.3184C>G | NP_001372135.1:p.Pro1062Ala | |
| NM_001385207.1:c.3292C>G | NP_001372136.1:p.Pro1098Ala |