Linked Data
dbSNP Id:
rs909266059
gnomAD v2:
5-94852560-A-G
gnomAD v3:
5-95516856-A-G
gnomAD v4:
5-95516856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516856A>G , CM000667.2:g.95516856A>G | GRCh38 |
| NC_000005.9:g.94852560A>G , CM000667.1:g.94852560A>G | GRCh37 |
| NC_000005.8:g.94878316A>G | NCBI36 |
| NG_023414.1:g.43150T>C , LRG_173:g.43150T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2786T>C | ||
| ENST00000513232.2:c.*1211T>C | ENSP00000422749.2:n.*1211T>C | |
| ENST00000698450.1:n.1820+60T>C | ||
| ENST00000698451.1:n.1916T>C | ||
| ENST00000698452.1:n.2987T>C | ||
| ENST00000698453.1:c.2441+55T>C | ENSP00000513735.1:n.2441+55T>C | |
| ENST00000698454.1:c.2427+60T>C | ENSP00000513736.1:n.2427+60T>C | |
| ENST00000698455.1:c.*2472T>C | ENSP00000513737.1:n.*2472T>C | |
| ENST00000698456.1:c.*1294+60T>C | ENSP00000513738.1:n.*1294+60T>C | |
| ENST00000698457.1:c.2226+60T>C | ENSP00000513739.1:n.2226+60T>C | |
| ENST00000698458.1:c.2477+55T>C | ENSP00000513740.1:n.2477+55T>C | |
| ENST00000698459.1:c.2436+60T>C | ENSP00000513741.1:n.2436+60T>C | |
| ENST00000698460.1:c.*278+60T>C | ENSP00000513742.1:n.*278+60T>C | |
| ENST00000698461.1:n.2786T>C | ||
| ENST00000698462.1:n.2811+60T>C | ||
| ENST00000698468.1:n.2987T>C | ||
| ENST00000698469.1:c.*1843T>C | ENSP00000513743.1:n.*1843T>C | |
| ENST00000698470.1:c.*338T>C | ENSP00000513744.1:n.*338T>C | |
| ENST00000698471.1:n.2786T>C | ||
| ENST00000698472.1:c.*1211T>C | ENSP00000513745.1:n.*1211T>C | |
| ENST00000698473.1:n.2786T>C | ||
| ENST00000698474.1:n.2786T>C | ||
| ENST00000698475.1:n.2871T>C | ||
| ENST00000698476.1:c.2436+60T>C | ENSP00000513746.1:n.2436+60T>C | |
| ENST00000698477.1:c.2441+55T>C | ENSP00000513747.1:n.2441+55T>C | |
| ENST00000698478.1:n.2786T>C | ||
| ENST00000698479.1:c.2436+60T>C | ENSP00000513748.1:n.2436+60T>C | |
| ENST00000698480.1:c.2436+60T>C | ENSP00000513749.1:n.2436+60T>C | |
| ENST00000698481.1:c.2436+60T>C | ENSP00000513750.1:n.2436+60T>C | |
| ENST00000698482.1:n.2726+60T>C | ||
| ENST00000698483.1:n.2786T>C | ||
| ENST00000698484.1:c.2436+60T>C | ENSP00000513751.1:n.2436+60T>C | |
| ENST00000698485.1:c.2436+60T>C | ENSP00000513752.1:n.2436+60T>C | |
| ENST00000698486.1:n.2786T>C | ||
| ENST00000698487.1:c.2436+60T>C | ENSP00000513753.1:n.2436+60T>C | |
| ENST00000698488.1:c.2259+60T>C | ENSP00000513754.1:n.2259+60T>C | |
| ENST00000698489.1:n.6571T>C | ||
| ENST00000698490.1:c.2436+60T>C | ENSP00000513755.1:n.2436+60T>C | |
| ENST00000698492.1:c.*1151+60T>C | ENSP00000513756.1:n.*1151+60T>C | |
| ENST00000698493.1:n.2726+60T>C | ||
| ENST00000698494.1:c.*226T>C | ENSP00000513757.1:n.*226T>C | |
| ENST00000358746.7:c.2436+60T>C MANE Select | ENSP00000351596.3:n.2436+60T>C | |
| ENST00000649566.1:c.2436+60T>C | ENSP00000497948.1:n.2436+60T>C | |
| ENST00000358746.6:c.2436+60T>C | ENSP00000351596.2:n.2436+60T>C | |
| ENST00000507805.5:n.518T>C | ||
| NM_014639.3:c.2436+60T>C , LRG_173t1:c.2436+60T>C | NP_055454.1:n.2436+60T>C | |
| XR_948312.1:n.2705+60T>C | ||
| XR_001742370.2:n.2708+60T>C | ||
| NM_014639.4:c.2436+60T>C MANE Select | NP_055454.1:n.2436+60T>C |