Linked Data
ClinVar Variation Id:
142451
dbSNP Id:
rs572554455
ExAC:
2:215595169 C / T
gnomAD v2:
2-215595169-C-T
gnomAD v3:
2-214730445-C-T
gnomAD v4:
2-214730445-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730445C>T , CM000664.2:g.214730445C>T | GRCh38 |
| NC_000002.11:g.215595169C>T , CM000664.1:g.215595169C>T | GRCh37 |
| NC_000002.10:g.215303414C>T | NCBI36 |
| NG_012047.2:g.84260G>A | |
| NG_012047.3:g.84267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1967G>A MANE Select | ENSP00000260947.4:p.Gly656Asp | |
| ENST00000421162.2:c.614G>A | ENSP00000392245.2:p.Gly205Asp | |
| ENST00000613192.2:c.*30G>A | ENSP00000483275.2:n.*30G>A | |
| ENST00000613374.5:c.557G>A | ENSP00000484464.1:p.Gly186Asp | |
| ENST00000613706.5:c.1559G>A | ENSP00000484976.2:p.Gly520Asp | |
| ENST00000617164.5:c.1910G>A | ENSP00000480470.1:p.Gly637Asp | |
| ENST00000619009.5:c.428G>A | ENSP00000482293.1:p.Gly143Asp | |
| ENST00000650978.1:c.3342G>A | ||
| ENST00000260947.8:c.1967G>A | ENSP00000260947.4:p.Gly656Asp | |
| ENST00000421162.1:c.614G>A | ENSP00000392245.1:p.Gly205Asp | |
| ENST00000432456.5:c.64G>A | ||
| ENST00000455743.5:c.*1587G>A | ENSP00000412186.1:n.*1587G>A | |
| ENST00000471590.5:n.302G>A | ||
| ENST00000613192.1:c.137G>A | ENSP00000483275.1:p.Gly46Asp | |
| ENST00000613374.4:c.557G>A | ENSP00000484464.1:p.Gly186Asp | |
| ENST00000613706.4:c.614G>A | ENSP00000484976.1:p.Gly205Asp | |
| ENST00000617164.4:c.1910G>A | ENSP00000480470.1:p.Gly637Asp | |
| ENST00000619009.4:c.428G>A | ENSP00000482293.1:p.Gly143Asp | |
| ENST00000620057.4:c.*633G>A | ENSP00000481988.1:n.*633G>A | |
| NM_000465.3:c.1967G>A | NP_000456.2:p.Gly656Asp | |
| NM_001282543.1:c.1910G>A | NP_001269472.1:p.Gly637Asp | |
| NM_001282545.1:c.614G>A | NP_001269474.1:p.Gly205Asp | |
| NM_001282548.1:c.557G>A | NP_001269477.1:p.Gly186Asp | |
| NM_001282549.1:c.428G>A | NP_001269478.1:p.Gly143Asp | |
| NR_104212.1:n.1960G>A | ||
| NR_104215.1:n.1903G>A | ||
| NR_104216.1:n.1159G>A | ||
| XM_011511567.1:c.1913G>A | XP_011509869.1:p.Gly638Asp | |
| XM_017004613.1:c.2066G>A | XP_016860102.1:p.Gly689Asp | |
| XR_002959322.1:n.2157G>A | ||
| NM_000465.4:c.1967G>A MANE Select | NP_000456.2:p.Gly656Asp | |
| NM_001282543.2:c.1910G>A | NP_001269472.1:p.Gly637Asp | |
| NM_001282545.2:c.614G>A | NP_001269474.1:p.Gly205Asp | |
| NM_001282548.2:c.557G>A | NP_001269477.1:p.Gly186Asp | |
| NM_001282549.2:c.428G>A | NP_001269478.1:p.Gly143Asp | |
| NR_104212.2:n.1932G>A | ||
| NR_104215.2:n.1875G>A | ||
| NR_104216.2:n.1131G>A |