Linked Data
dbSNP Id:
rs894355393
gnomAD v2:
X-14863038-T-G
gnomAD v3:
X-14844916-T-G
gnomAD v4:
X-14844916-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.14844916T>G , CM000685.2:g.14844916T>G | GRCh38 |
| NC_000023.10:g.14863038T>G , CM000685.1:g.14863038T>G | GRCh37 |
| NC_000023.9:g.14772959T>G | NCBI36 |
| NG_007310.1:g.33147A>C , LRG_496:g.33147A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452869.2:c.1867A>C | ENSP00000397849.2:p.Ser623Arg | |
| ENST00000643728.2:c.*946A>C | ENSP00000495047.1:n.*946A>C | |
| ENST00000696311.1:c.1867A>C | ENSP00000512549.1:p.Ser623Arg | |
| ENST00000696312.1:c.1867A>C | ENSP00000512550.1:p.Ser623Arg | |
| ENST00000696322.1:c.1240A>C | ||
| ENST00000696351.1:c.1867A>C | ENSP00000512572.1:p.Ser623Arg | |
| ENST00000696352.1:c.1867A>C | ENSP00000512573.1:p.Ser623Arg | |
| ENST00000696353.1:c.1867A>C | ENSP00000512574.1:p.Ser623Arg | |
| ENST00000696354.1:c.1867A>C | ENSP00000512575.1:p.Ser623Arg | |
| ENST00000696355.1:c.1497-176A>C | ENSP00000512576.1:n.1497-176A>C | |
| ENST00000696356.1:c.1867A>C | ENSP00000512577.1:p.Ser623Arg | |
| ENST00000696357.1:c.1867A>C | ENSP00000512578.1:p.Ser623Arg | |
| ENST00000643728.1:c.*946A>C | ENSP00000495047.1:n.*946A>C | |
| ENST00000646255.1:c.*859A>C | ENSP00000494963.1:n.*859A>C | |
| ENST00000650831.1:c.1867A>C MANE Select | ENSP00000498215.1:p.Ser623Arg | |
| ENST00000324138.7:c.1867A>C | ENSP00000326819.3:p.Ser623Arg | |
| ENST00000398334.5:c.1867A>C | ENSP00000381378.1:p.Ser623Arg | |
| ENST00000452869.1:c.1867A>C | ENSP00000397849.1:p.Ser623Arg | |
| NM_001018113.1:c.1867A>C , LRG_496t1:c.1867A>C | NP_001018123.1:p.Ser623Arg | |
| NM_152633.2:c.1867A>C | NP_689846.1:p.Ser623Arg | |
| XM_011545470.1:c.1867A>C | XP_011543772.1:p.Ser623Arg | |
| NM_001018113.2:c.1867A>C | NP_001018123.1:p.Ser623Arg | |
| NM_001324162.1:c.1867A>C | NP_001311091.1:p.Ser623Arg | |
| NM_152633.3:c.1867A>C | NP_689846.1:p.Ser623Arg | |
| XM_011545470.2:c.1867A>C | XP_011543772.1:p.Ser623Arg | |
| XM_017029355.2:c.1867A>C | XP_016884844.1:p.Ser623Arg | |
| XM_017029356.1:c.1867A>C | XP_016884845.1:p.Ser623Arg | |
| XR_001755672.1:n.2328A>C | ||
| XR_001755673.1:n.2120A>C | ||
| XR_001755674.1:n.2021A>C | ||
| NM_001018113.3:c.1867A>C MANE Select | NP_001018123.1:p.Ser623Arg | |
| NM_001324162.2:c.1867A>C | NP_001311091.1:p.Ser623Arg | |
| NM_152633.4:c.1867A>C | NP_689846.1:p.Ser623Arg |