Linked Data
dbSNP Id:
rs761924788
ExAC:
1:181620585 A / C
gnomAD v2:
1-181620585-A-C
gnomAD v4:
1-181651449-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.181651449A>C , CM000663.2:g.181651449A>C | GRCh38 |
| NC_000001.10:g.181620585A>C , CM000663.1:g.181620585A>C | GRCh37 |
| NC_000001.9:g.179887208A>C | NCBI36 |
| NG_050616.1:g.173139A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367570.6:c.1055+8A>C | ENSP00000356542.1:n.1055+8A>C | |
| ENST00000700187.1:n.1037+8A>C | ||
| ENST00000367573.7:c.1055+8A>C MANE Select | ENSP00000356545.2:n.1055+8A>C | |
| ENST00000524607.6:c.1490+8A>C | ENSP00000432038.2:n.1490+8A>C | |
| ENST00000357570.9:c.1055+8A>C | ENSP00000350183.6:n.1055+8A>C | |
| ENST00000358338.7:c.1055+8A>C | ENSP00000351101.6:n.1055+8A>C | |
| ENST00000360108.7:c.1055+8A>C | ENSP00000353222.3:n.1055+8A>C | |
| ENST00000367567.8:c.1055+8A>C | ENSP00000356539.5:n.1055+8A>C | |
| ENST00000367570.5:c.1055+8A>C | ENSP00000356542.1:n.1055+8A>C | |
| ENST00000367573.6:c.1055+8A>C | ENSP00000356545.2:n.1055+8A>C | |
| ENST00000524607.5:c.1055+8A>C | ENSP00000432038.1:n.1055+8A>C | |
| ENST00000533229.1:n.1497A>C | ||
| ENST00000621551.3:c.1055+8A>C | ENSP00000483914.1:n.1055+8A>C | |
| ENST00000621791.4:c.1055+8A>C | ENSP00000481619.1:n.1055+8A>C | |
| NM_000721.3:c.1055+8A>C | NP_000712.2:n.1055+8A>C | |
| NM_001205293.1:c.1055+8A>C | NP_001192222.1:n.1055+8A>C | |
| NM_001205294.1:c.1055+8A>C | NP_001192223.1:n.1055+8A>C | |
| XM_011509971.1:c.1055+8A>C | XP_011508273.1:n.1055+8A>C | |
| NM_001205293.2:c.1055+8A>C | NP_001192222.1:n.1055+8A>C | |
| XM_017002243.1:c.1490+8A>C | XP_016857732.1:n.1490+8A>C | |
| XM_017002244.1:c.1490+8A>C | XP_016857733.1:n.1490+8A>C | |
| XM_017002245.1:c.1490+8A>C | XP_016857734.1:n.1490+8A>C | |
| XM_017002246.1:c.1490+8A>C | XP_016857735.1:n.1490+8A>C | |
| XM_017002247.1:c.1490+8A>C | XP_016857736.1:n.1490+8A>C | |
| XM_017002248.1:c.1490+8A>C | XP_016857737.1:n.1490+8A>C | |
| XM_017002249.1:c.1490+8A>C | XP_016857738.1:n.1490+8A>C | |
| XM_017002250.1:c.1490+8A>C | XP_016857739.1:n.1490+8A>C | |
| XM_017002251.1:c.1490+8A>C | XP_016857740.1:n.1490+8A>C | |
| NM_001205293.3:c.1055+8A>C MANE Select | NP_001192222.1:n.1055+8A>C | |
| NM_000721.4:c.1055+8A>C | NP_000712.2:n.1055+8A>C | |
| NM_001205294.2:c.1055+8A>C | NP_001192223.1:n.1055+8A>C |