Linked Data
dbSNP Id:
rs1479284075
gnomAD v2:
19-46181301-G-A
gnomAD v3:
19-45678043-G-A
gnomAD v4:
19-45678043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45678043G>A , CM000681.2:g.45678043G>A | GRCh38 |
| NC_000019.9:g.46181301G>A , CM000681.1:g.46181301G>A | GRCh37 |
| NC_000019.8:g.50873141G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.1014-45G>A MANE Select | ENSP00000467494.1:n.1014-45G>A | |
| ENST00000652180.1:c.831-45G>A | ENSP00000498426.1:n.831-45G>A | |
| ENST00000263281.7:c.1014-45G>A | ENSP00000263281.3:n.1014-45G>A | |
| ENST00000304207.12:c.906-45G>A | ENSP00000305321.8:n.906-45G>A | |
| ENST00000585889.1:c.*85-45G>A | ENSP00000467342.1:n.*85-45G>A | |
| ENST00000590918.5:c.1014-45G>A | ENSP00000467494.1:n.1014-45G>A | |
| ENST00000591224.1:n.470-45G>A | ||
| ENST00000593127.1:n.115-45G>A | ||
| NM_000164.2:c.1014-45G>A | NP_000155.1:n.1014-45G>A | |
| NM_000164.3:c.1014-45G>A | NP_000155.1:n.1014-45G>A | |
| NM_001308418.1:c.906-45G>A | NP_001295347.1:n.906-45G>A | |
| XM_011526709.1:c.1140-45G>A | XP_011525011.1:n.1140-45G>A | |
| XM_011526710.1:c.1140-45G>A | XP_011525012.1:n.1140-45G>A | |
| XM_011526711.1:c.1032-45G>A | XP_011525013.1:n.1032-45G>A | |
| XM_011526712.1:c.906-45G>A | XP_011525014.1:n.906-45G>A | |
| XM_011526713.1:c.891-45G>A | XP_011525015.1:n.891-45G>A | |
| XM_011526714.1:c.723-45G>A | XP_011525016.1:n.723-45G>A | |
| XM_011526715.1:c.723-45G>A | XP_011525017.1:n.723-45G>A | |
| XR_935791.1:n.1033-45G>A | ||
| XM_011526709.2:c.1140-45G>A | XP_011525011.1:n.1140-45G>A | |
| XM_011526710.2:c.1140-45G>A | XP_011525012.1:n.1140-45G>A | |
| XM_011526711.2:c.1032-45G>A | XP_011525013.1:n.1032-45G>A | |
| XM_011526713.2:c.891-45G>A | XP_011525015.1:n.891-45G>A | |
| XM_011526714.2:c.723-45G>A | XP_011525016.1:n.723-45G>A | |
| XM_011526715.2:c.723-45G>A | XP_011525017.1:n.723-45G>A | |
| XM_017026584.1:c.669-45G>A | XP_016882073.1:n.669-45G>A | |
| XM_017026585.1:c.648-45G>A | XP_016882074.1:n.648-45G>A | |
| XM_017026586.1:c.525-45G>A | XP_016882075.1:n.525-45G>A | |
| XM_017026587.1:c.522-45G>A | XP_016882076.1:n.522-45G>A | |
| XR_001753655.1:n.1109-45G>A | ||
| XR_935791.2:n.1039-45G>A | ||
| NM_000164.4:c.1014-45G>A MANE Select | NP_000155.1:n.1014-45G>A | |
| NM_001308418.2:c.906-45G>A | NP_001295347.1:n.906-45G>A |