Linked Data
ClinVar Variation Id:
509210
ClinVar RCV Id:
RCV001722657
dbSNP Id:
rs143533630
ExAC:
19:10463599 C / T
gnomAD v2:
19-10463599-C-T
gnomAD v3:
19-10352923-C-T
gnomAD v4:
19-10352923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352923C>T , CM000681.2:g.10352923C>T | GRCh38 |
| NC_000019.9:g.10463599C>T , CM000681.1:g.10463599C>T | GRCh37 |
| NC_000019.8:g.10324599C>T | NCBI36 |
| NG_007872.1:g.32650G>A , LRG_121:g.32650G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*1549+3G>A | ENSP00000514307.1:n.*1549+3G>A | |
| ENST00000525976.6:c.3200+3G>A | ENSP00000434831.2:n.3200+3G>A | |
| ENST00000527481.3:c.3081+3G>A | ENSP00000466340.2:n.3081+3G>A | |
| ENST00000529370.6:n.4576+3G>A | ||
| ENST00000529739.2:n.4009+3G>A | ||
| ENST00000530829.2:c.*2751+3G>A | ENSP00000436826.2:n.*2751+3G>A | |
| ENST00000531836.6:c.3200+3G>A | ENSP00000436175.2:n.3200+3G>A | |
| ENST00000533334.2:c.*1242+3G>A | ENSP00000432320.2:n.*1242+3G>A | |
| ENST00000534228.2:n.5054+3G>A | ||
| ENST00000699354.1:n.1302+3G>A | ||
| ENST00000699355.1:c.*2700+3G>A | ENSP00000514328.1:n.*2700+3G>A | |
| ENST00000699356.1:n.4009+3G>A | ||
| ENST00000699357.1:n.5054+3G>A | ||
| ENST00000699358.1:c.3200+3G>A | ENSP00000514329.1:n.3200+3G>A | |
| ENST00000699359.1:c.374+35G>A | ||
| ENST00000699360.1:c.3158+45G>A | ENSP00000514331.1:n.3158+45G>A | |
| ENST00000699362.1:c.97-372G>A | ENSP00000514332.1:n.97-372G>A | |
| ENST00000699363.1:c.97-372G>A | ENSP00000514333.1:n.97-372G>A | |
| ENST00000699364.1:n.200+3G>A | ||
| ENST00000699365.1:c.269+3G>A | ENSP00000514334.1:n.269+3G>A | |
| ENST00000699366.1:n.111+891G>A | ||
| ENST00000699367.1:n.111+891G>A | ||
| ENST00000699368.1:c.687+3G>A | ENSP00000514335.1:n.687+3G>A | |
| ENST00000525621.6:c.3200+3G>A MANE Select | ENSP00000431885.1:n.3200+3G>A | |
| ENST00000264818.10:c.3200+3G>A | ENSP00000264818.6:n.3200+3G>A | |
| ENST00000524462.5:c.2645+3G>A | ENSP00000433203.1:n.2645+3G>A | |
| ENST00000525621.5:c.3200+3G>A | ENSP00000431885.1:n.3200+3G>A | |
| ENST00000527481.2:c.377+3G>A | ||
| ENST00000529422.1:n.116+99G>A | ||
| ENST00000529739.1:c.269+3G>A | ENSP00000436155.1:n.269+3G>A | |
| ENST00000530220.1:n.331+3G>A | ||
| ENST00000530560.5:c.337+1119G>A | ENSP00000465291.1:n.337+1119G>A | |
| ENST00000592137.1:n.354+3G>A | ||
| NM_003331.4:c.3200+3G>A , LRG_121t1:c.3200+3G>A | NP_003322.3:n.3200+3G>A | |
| XM_011528245.1:c.3200+3G>A | XP_011526547.1:n.3200+3G>A | |
| XM_011528246.1:c.2903+3G>A | XP_011526548.1:n.2903+3G>A | |
| XM_011528247.1:c.2903+3G>A | XP_011526549.1:n.2903+3G>A | |
| XM_011528248.1:c.3200+3G>A | XP_011526550.1:n.3200+3G>A | |
| XM_011528249.1:c.1874+3G>A | XP_011526551.1:n.1874+3G>A | |
| XM_011528251.1:c.1457+3G>A | XP_011526553.1:n.1457+3G>A | |
| XM_011528246.3:c.2903+3G>A | XP_011526548.1:n.2903+3G>A | |
| XM_011528249.2:c.1874+3G>A | XP_011526551.1:n.1874+3G>A | |
| XR_001753750.1:n.3357+3G>A | ||
| XR_001753751.1:n.3752+3G>A | ||
| XR_002958353.1:n.4678+3G>A | ||
| NM_003331.5:c.3200+3G>A MANE Select | NP_003322.3:n.3200+3G>A | |
| NM_001385197.1:c.3200+3G>A | NP_001372126.1:n.3200+3G>A | |
| NM_001385198.1:c.3168+35G>A | NP_001372127.1:n.3168+35G>A | |
| NM_001385199.1:c.3014+3G>A | NP_001372128.1:n.3014+3G>A | |
| NM_001385200.1:c.3197+3G>A | NP_001372129.1:n.3197+3G>A | |
| NM_001385201.1:c.3002+3G>A | NP_001372130.1:n.3002+3G>A | |
| NM_001385202.1:c.3116+3G>A | NP_001372131.1:n.3116+3G>A | |
| NM_001385203.1:c.3281+3G>A | NP_001372132.1:n.3281+3G>A | |
| NM_001385204.1:c.3410+3G>A | NP_001372133.1:n.3410+3G>A | |
| NM_001385205.1:c.3110+3G>A | NP_001372134.1:n.3110+3G>A | |
| NM_001385206.1:c.3074+3G>A | NP_001372135.1:n.3074+3G>A | |
| NM_001385207.1:c.3182+3G>A | NP_001372136.1:n.3182+3G>A |