Linked Data
ClinVar Variation Id:
1568115
ClinVar RCV Id:
RCV002216804
dbSNP Id:
rs1057523017
gnomAD v3:
2-214792279-G-T
gnomAD v4:
2-214792279-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792279G>T , CM000664.2:g.214792279G>T | GRCh38 |
| NC_000002.11:g.215657003G>T , CM000664.1:g.215657003G>T | GRCh37 |
| NC_000002.10:g.215365248G>T | NCBI36 |
| NG_012047.2:g.22426C>A | |
| NG_012047.3:g.22433C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.364+18C>A MANE Select | ENSP00000260947.4:n.364+18C>A | |
| ENST00000421162.2:c.215+4782C>A | ENSP00000392245.2:n.215+4782C>A | |
| ENST00000613192.2:c.158+17133C>A | ENSP00000483275.2:n.158+17133C>A | |
| ENST00000613374.5:c.158+17133C>A | ENSP00000484464.1:n.158+17133C>A | |
| ENST00000613706.5:c.364+18C>A | ENSP00000484976.2:n.364+18C>A | |
| ENST00000617164.5:c.307+18C>A | ENSP00000480470.1:n.307+18C>A | |
| ENST00000619009.5:c.364+18C>A | ENSP00000482293.1:n.364+18C>A | |
| ENST00000650978.1:c.206+18C>A | ||
| ENST00000260947.8:c.364+18C>A | ENSP00000260947.4:n.364+18C>A | |
| ENST00000421162.1:c.215+4782C>A | ENSP00000392245.1:n.215+4782C>A | |
| ENST00000455743.5:c.215+4782C>A | ENSP00000412186.1:n.215+4782C>A | |
| ENST00000471787.1:n.260-10770C>A | ||
| ENST00000613192.1:c.73+17133C>A | ENSP00000483275.1:n.73+17133C>A | |
| ENST00000613374.4:c.158+17133C>A | ENSP00000484464.1:n.158+17133C>A | |
| ENST00000613706.4:c.215+4782C>A | ENSP00000484976.1:n.215+4782C>A | |
| ENST00000617164.4:c.307+18C>A | ENSP00000480470.1:n.307+18C>A | |
| ENST00000619009.4:c.364+18C>A | ENSP00000482293.1:n.364+18C>A | |
| ENST00000620057.4:c.364+18C>A | ENSP00000481988.1:n.364+18C>A | |
| NM_000465.3:c.364+18C>A | NP_000456.2:n.364+18C>A | |
| NM_001282543.1:c.307+18C>A | NP_001269472.1:n.307+18C>A | |
| NM_001282545.1:c.215+4782C>A | NP_001269474.1:n.215+4782C>A | |
| NM_001282548.1:c.158+17133C>A | NP_001269477.1:n.158+17133C>A | |
| NM_001282549.1:c.364+18C>A | NP_001269478.1:n.364+18C>A | |
| NR_104212.1:n.357+4782C>A | ||
| NR_104215.1:n.301-10770C>A | ||
| NR_104216.1:n.506+18C>A | ||
| XM_011511567.1:c.310+18C>A | XP_011509869.1:n.310+18C>A | |
| XM_011511568.1:c.364+18C>A | XP_011509870.1:n.364+18C>A | |
| XM_017004613.1:c.463+18C>A | XP_016860102.1:n.463+18C>A | |
| XM_017004614.1:c.463+18C>A | XP_016860103.1:n.463+18C>A | |
| XR_002959322.1:n.554+18C>A | ||
| NM_000465.4:c.364+18C>A MANE Select | NP_000456.2:n.364+18C>A | |
| NM_001282543.2:c.307+18C>A | NP_001269472.1:n.307+18C>A | |
| NM_001282545.2:c.215+4782C>A | NP_001269474.1:n.215+4782C>A | |
| NM_001282548.2:c.158+17133C>A | NP_001269477.1:n.158+17133C>A | |
| NM_001282549.2:c.364+18C>A | NP_001269478.1:n.364+18C>A | |
| NR_104212.2:n.329+4782C>A | ||
| NR_104215.2:n.273-10770C>A | ||
| NR_104216.2:n.478+18C>A |