Linked Data
dbSNP Id:
rs770254978
ExAC:
19:46181297 G / C
gnomAD v2:
19-46181297-G-C
gnomAD v4:
19-45678039-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45678039G>C , CM000681.2:g.45678039G>C | GRCh38 |
| NC_000019.9:g.46181297G>C , CM000681.1:g.46181297G>C | GRCh37 |
| NC_000019.8:g.50873137G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.1013+45G>C MANE Select | ENSP00000467494.1:n.1013+45G>C | |
| ENST00000652180.1:c.830+45G>C | ENSP00000498426.1:n.830+45G>C | |
| ENST00000263281.7:c.1013+45G>C | ENSP00000263281.3:n.1013+45G>C | |
| ENST00000304207.12:c.905+45G>C | ENSP00000305321.8:n.905+45G>C | |
| ENST00000585889.1:c.*84+45G>C | ENSP00000467342.1:n.*84+45G>C | |
| ENST00000590918.5:c.1013+45G>C | ENSP00000467494.1:n.1013+45G>C | |
| ENST00000591224.1:n.469+45G>C | ||
| ENST00000593127.1:n.114+45G>C | ||
| NM_000164.2:c.1013+45G>C | NP_000155.1:n.1013+45G>C | |
| NM_000164.3:c.1013+45G>C | NP_000155.1:n.1013+45G>C | |
| NM_001308418.1:c.905+45G>C | NP_001295347.1:n.905+45G>C | |
| XM_011526709.1:c.1139+45G>C | XP_011525011.1:n.1139+45G>C | |
| XM_011526710.1:c.1139+45G>C | XP_011525012.1:n.1139+45G>C | |
| XM_011526711.1:c.1031+45G>C | XP_011525013.1:n.1031+45G>C | |
| XM_011526712.1:c.905+45G>C | XP_011525014.1:n.905+45G>C | |
| XM_011526713.1:c.890+45G>C | XP_011525015.1:n.890+45G>C | |
| XM_011526714.1:c.722+45G>C | XP_011525016.1:n.722+45G>C | |
| XM_011526715.1:c.722+45G>C | XP_011525017.1:n.722+45G>C | |
| XR_935791.1:n.1032+45G>C | ||
| XM_011526709.2:c.1139+45G>C | XP_011525011.1:n.1139+45G>C | |
| XM_011526710.2:c.1139+45G>C | XP_011525012.1:n.1139+45G>C | |
| XM_011526711.2:c.1031+45G>C | XP_011525013.1:n.1031+45G>C | |
| XM_011526713.2:c.890+45G>C | XP_011525015.1:n.890+45G>C | |
| XM_011526714.2:c.722+45G>C | XP_011525016.1:n.722+45G>C | |
| XM_011526715.2:c.722+45G>C | XP_011525017.1:n.722+45G>C | |
| XM_017026584.1:c.668+45G>C | XP_016882073.1:n.668+45G>C | |
| XM_017026585.1:c.647+45G>C | XP_016882074.1:n.647+45G>C | |
| XM_017026586.1:c.524+45G>C | XP_016882075.1:n.524+45G>C | |
| XM_017026587.1:c.521+45G>C | XP_016882076.1:n.521+45G>C | |
| XR_001753655.1:n.1108+45G>C | ||
| XR_935791.2:n.1038+45G>C | ||
| NM_000164.4:c.1013+45G>C MANE Select | NP_000155.1:n.1013+45G>C | |
| NM_001308418.2:c.905+45G>C | NP_001295347.1:n.905+45G>C |