Linked Data
dbSNP Id:
rs757820135
ExAC:
19:10468297 G / T
gnomAD v2:
19-10468297-G-T
gnomAD v4:
19-10357621-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10357621G>T , CM000681.2:g.10357621G>T | GRCh38 |
| NC_000019.9:g.10468297G>T , CM000681.1:g.10468297G>T | GRCh37 |
| NC_000019.8:g.10329297G>T | NCBI36 |
| NG_007872.1:g.27952C>A , LRG_121:g.27952C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*815+143C>A | ENSP00000514307.1:n.*815+143C>A | |
| ENST00000525976.6:c.2466+143C>A | ENSP00000434831.2:n.2466+143C>A | |
| ENST00000527481.3:c.2466+143C>A | ENSP00000466340.2:n.2466+143C>A | |
| ENST00000529370.6:n.2940C>A | ||
| ENST00000529739.2:n.2880+143C>A | ||
| ENST00000530829.2:c.*2017+143C>A | ENSP00000436826.2:n.*2017+143C>A | |
| ENST00000531836.6:c.2466+143C>A | ENSP00000436175.2:n.2466+143C>A | |
| ENST00000533334.2:c.*508+143C>A | ENSP00000432320.2:n.*508+143C>A | |
| ENST00000534228.2:n.3023C>A | ||
| ENST00000699354.1:n.568+143C>A | ||
| ENST00000699355.1:c.*669C>A | ENSP00000514328.1:n.*669C>A | |
| ENST00000699356.1:n.2880+143C>A | ||
| ENST00000699357.1:n.3023C>A | ||
| ENST00000699358.1:c.2466+143C>A | ENSP00000514329.1:n.2466+143C>A | |
| ENST00000699360.1:c.2466+143C>A | ENSP00000514331.1:n.2466+143C>A | |
| ENST00000525621.6:c.2466+143C>A MANE Select | ENSP00000431885.1:n.2466+143C>A | |
| ENST00000264818.10:c.2466+143C>A | ENSP00000264818.6:n.2466+143C>A | |
| ENST00000524462.5:c.1911+143C>A | ENSP00000433203.1:n.1911+143C>A | |
| ENST00000525621.5:c.2466+143C>A | ENSP00000431885.1:n.2466+143C>A | |
| ENST00000529370.5:c.2609C>A | ENSP00000432728.1:p.Ala870Asp | |
| ENST00000529412.1:n.138+143C>A | ||
| NM_003331.4:c.2466+143C>A , LRG_121t1:c.2466+143C>A | NP_003322.3:n.2466+143C>A | |
| XM_011528245.1:c.2466+143C>A | XP_011526547.1:n.2466+143C>A | |
| XM_011528246.1:c.2169+143C>A | XP_011526548.1:n.2169+143C>A | |
| XM_011528247.1:c.2169+143C>A | XP_011526549.1:n.2169+143C>A | |
| XM_011528248.1:c.2466+143C>A | XP_011526550.1:n.2466+143C>A | |
| XM_011528249.1:c.1140+143C>A | XP_011526551.1:n.1140+143C>A | |
| XM_011528251.1:c.723+143C>A | XP_011526553.1:n.723+143C>A | |
| XM_011528246.3:c.2169+143C>A | XP_011526548.1:n.2169+143C>A | |
| XM_011528249.2:c.1140+143C>A | XP_011526551.1:n.1140+143C>A | |
| XR_001753750.1:n.2623+143C>A | ||
| XR_001753751.1:n.2623+143C>A | ||
| XR_002958353.1:n.2647C>A | ||
| NM_003331.5:c.2466+143C>A MANE Select | NP_003322.3:n.2466+143C>A | |
| NM_001385197.1:c.2466+143C>A | NP_001372126.1:n.2466+143C>A | |
| NM_001385198.1:c.2466+143C>A | NP_001372127.1:n.2466+143C>A | |
| NM_001385199.1:c.2280+143C>A | NP_001372128.1:n.2280+143C>A | |
| NM_001385200.1:c.2466+143C>A | NP_001372129.1:n.2466+143C>A | |
| NM_001385201.1:c.2268+143C>A | NP_001372130.1:n.2268+143C>A | |
| NM_001385202.1:c.2382+143C>A | NP_001372131.1:n.2382+143C>A | |
| NM_001385203.1:c.2466+143C>A | NP_001372132.1:n.2466+143C>A | |
| NM_001385204.1:c.2609C>A | NP_001372133.1:p.Ala870Asp | |
| NM_001385205.1:c.2376+143C>A | NP_001372134.1:n.2376+143C>A | |
| NM_001385206.1:c.2340+143C>A | NP_001372135.1:n.2340+143C>A | |
| NM_001385207.1:c.2448+143C>A | NP_001372136.1:n.2448+143C>A |