Linked Data
dbSNP Id:
rs550229588
ExAC:
19:46181296 A / G
gnomAD v2:
19-46181296-A-G
gnomAD v3:
19-45678038-A-G
gnomAD v4:
19-45678038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45678038A>G , CM000681.2:g.45678038A>G | GRCh38 |
| NC_000019.9:g.46181296A>G , CM000681.1:g.46181296A>G | GRCh37 |
| NC_000019.8:g.50873136A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.1013+44A>G MANE Select | ENSP00000467494.1:n.1013+44A>G | |
| ENST00000652180.1:c.830+44A>G | ENSP00000498426.1:n.830+44A>G | |
| ENST00000263281.7:c.1013+44A>G | ENSP00000263281.3:n.1013+44A>G | |
| ENST00000304207.12:c.905+44A>G | ENSP00000305321.8:n.905+44A>G | |
| ENST00000585889.1:c.*84+44A>G | ENSP00000467342.1:n.*84+44A>G | |
| ENST00000590918.5:c.1013+44A>G | ENSP00000467494.1:n.1013+44A>G | |
| ENST00000591224.1:n.469+44A>G | ||
| ENST00000593127.1:n.114+44A>G | ||
| NM_000164.2:c.1013+44A>G | NP_000155.1:n.1013+44A>G | |
| NM_000164.3:c.1013+44A>G | NP_000155.1:n.1013+44A>G | |
| NM_001308418.1:c.905+44A>G | NP_001295347.1:n.905+44A>G | |
| XM_011526709.1:c.1139+44A>G | XP_011525011.1:n.1139+44A>G | |
| XM_011526710.1:c.1139+44A>G | XP_011525012.1:n.1139+44A>G | |
| XM_011526711.1:c.1031+44A>G | XP_011525013.1:n.1031+44A>G | |
| XM_011526712.1:c.905+44A>G | XP_011525014.1:n.905+44A>G | |
| XM_011526713.1:c.890+44A>G | XP_011525015.1:n.890+44A>G | |
| XM_011526714.1:c.722+44A>G | XP_011525016.1:n.722+44A>G | |
| XM_011526715.1:c.722+44A>G | XP_011525017.1:n.722+44A>G | |
| XR_935791.1:n.1032+44A>G | ||
| XM_011526709.2:c.1139+44A>G | XP_011525011.1:n.1139+44A>G | |
| XM_011526710.2:c.1139+44A>G | XP_011525012.1:n.1139+44A>G | |
| XM_011526711.2:c.1031+44A>G | XP_011525013.1:n.1031+44A>G | |
| XM_011526713.2:c.890+44A>G | XP_011525015.1:n.890+44A>G | |
| XM_011526714.2:c.722+44A>G | XP_011525016.1:n.722+44A>G | |
| XM_011526715.2:c.722+44A>G | XP_011525017.1:n.722+44A>G | |
| XM_017026584.1:c.668+44A>G | XP_016882073.1:n.668+44A>G | |
| XM_017026585.1:c.647+44A>G | XP_016882074.1:n.647+44A>G | |
| XM_017026586.1:c.524+44A>G | XP_016882075.1:n.524+44A>G | |
| XM_017026587.1:c.521+44A>G | XP_016882076.1:n.521+44A>G | |
| XR_001753655.1:n.1108+44A>G | ||
| XR_935791.2:n.1038+44A>G | ||
| NM_000164.4:c.1013+44A>G MANE Select | NP_000155.1:n.1013+44A>G | |
| NM_001308418.2:c.905+44A>G | NP_001295347.1:n.905+44A>G |