Linked Data
ClinVar Variation Id:
490950
dbSNP Id:
rs771914644
ExAC:
2:215609774 T / C
gnomAD v2:
2-215609774-T-C
gnomAD v4:
2-214745050-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745050T>C , CM000664.2:g.214745050T>C | GRCh38 |
| NC_000002.11:g.215609774T>C , CM000664.1:g.215609774T>C | GRCh37 |
| NC_000002.10:g.215318019T>C | NCBI36 |
| NG_012047.2:g.69655A>G | |
| NG_012047.3:g.69662A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1903+17A>G MANE Select | ENSP00000260947.4:n.1903+17A>G | |
| ENST00000421162.2:c.550+17A>G | ENSP00000392245.2:n.550+17A>G | |
| ENST00000613192.2:c.159-14542A>G | ENSP00000483275.2:n.159-14542A>G | |
| ENST00000613374.5:c.493+17A>G | ENSP00000484464.1:n.493+17A>G | |
| ENST00000613706.5:c.1495+17A>G | ENSP00000484976.2:n.1495+17A>G | |
| ENST00000617164.5:c.1846+17A>G | ENSP00000480470.1:n.1846+17A>G | |
| ENST00000619009.5:c.365-14542A>G | ENSP00000482293.1:n.365-14542A>G | |
| ENST00000650978.1:c.3278+17A>G | ||
| ENST00000260947.8:c.1903+17A>G | ENSP00000260947.4:n.1903+17A>G | |
| ENST00000421162.1:c.550+17A>G | ENSP00000392245.1:n.550+17A>G | |
| ENST00000455743.5:c.*1523+17A>G | ENSP00000412186.1:n.*1523+17A>G | |
| ENST00000613192.1:c.74-14542A>G | ENSP00000483275.1:n.74-14542A>G | |
| ENST00000613374.4:c.493+17A>G | ENSP00000484464.1:n.493+17A>G | |
| ENST00000613706.4:c.550+17A>G | ENSP00000484976.1:n.550+17A>G | |
| ENST00000617164.4:c.1846+17A>G | ENSP00000480470.1:n.1846+17A>G | |
| ENST00000619009.4:c.365-14542A>G | ENSP00000482293.1:n.365-14542A>G | |
| ENST00000620057.4:c.*569+17A>G | ENSP00000481988.1:n.*569+17A>G | |
| NM_000465.3:c.1903+17A>G | NP_000456.2:n.1903+17A>G | |
| NM_001282543.1:c.1846+17A>G | NP_001269472.1:n.1846+17A>G | |
| NM_001282545.1:c.550+17A>G | NP_001269474.1:n.550+17A>G | |
| NM_001282548.1:c.493+17A>G | NP_001269477.1:n.493+17A>G | |
| NM_001282549.1:c.365-14542A>G | NP_001269478.1:n.365-14542A>G | |
| NR_104212.1:n.1896+17A>G | ||
| NR_104215.1:n.1839+17A>G | ||
| NR_104216.1:n.1095+17A>G | ||
| XM_011511567.1:c.1849+17A>G | XP_011509869.1:n.1849+17A>G | |
| XM_011511568.1:c.1903+17A>G | XP_011509870.1:n.1903+17A>G | |
| XM_017004613.1:c.2002+17A>G | XP_016860102.1:n.2002+17A>G | |
| XM_017004614.1:c.2002+17A>G | XP_016860103.1:n.2002+17A>G | |
| XR_002959322.1:n.2093+17A>G | ||
| NM_000465.4:c.1903+17A>G MANE Select | NP_000456.2:n.1903+17A>G | |
| NM_001282543.2:c.1846+17A>G | NP_001269472.1:n.1846+17A>G | |
| NM_001282545.2:c.550+17A>G | NP_001269474.1:n.550+17A>G | |
| NM_001282548.2:c.493+17A>G | NP_001269477.1:n.493+17A>G | |
| NM_001282549.2:c.365-14542A>G | NP_001269478.1:n.365-14542A>G | |
| NR_104212.2:n.1868+17A>G | ||
| NR_104215.2:n.1811+17A>G | ||
| NR_104216.2:n.1067+17A>G |