Linked Data
dbSNP Id:
rs587640934
ExAC:
1:150776764 A / G
gnomAD v2:
1-150776764-A-G
gnomAD v3:
1-150804288-A-G
gnomAD v4:
1-150804288-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804288A>G , CM000663.2:g.150804288A>G | GRCh38 |
| NC_000001.10:g.150776764A>G , CM000663.1:g.150776764A>G | GRCh37 |
| NC_000001.9:g.149043388A>G | NCBI36 |
| NG_011848.1:g.9049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.400-49T>C MANE Select | ENSP00000271651.3:n.400-49T>C | |
| ENST00000443913.2:c.577-49T>C | ENSP00000405083.2:n.577-49T>C | |
| ENST00000480670.2:n.3469-49T>C | ||
| ENST00000676680.1:c.400-49T>C | ENSP00000503270.1:n.400-49T>C | |
| ENST00000676716.1:c.277-49T>C | ENSP00000504737.1:n.277-49T>C | |
| ENST00000676751.1:c.400-49T>C | ENSP00000502964.1:n.400-49T>C | |
| ENST00000676824.1:c.400-49T>C | ENSP00000504176.1:n.400-49T>C | |
| ENST00000676966.1:c.400-49T>C | ENSP00000503723.1:n.400-49T>C | |
| ENST00000676970.1:c.400-49T>C | ENSP00000503832.1:n.400-49T>C | |
| ENST00000677330.1:n.2226-49T>C | ||
| ENST00000677611.1:n.252-49T>C | ||
| ENST00000677887.1:c.442-49T>C | ENSP00000503876.1:n.442-49T>C | |
| ENST00000678275.1:c.*292-49T>C | ENSP00000504796.1:n.*292-49T>C | |
| ENST00000678337.1:c.436-49T>C | ENSP00000504759.1:n.436-49T>C | |
| ENST00000678725.1:n.1377-49T>C | ||
| ENST00000679090.1:n.985-49T>C | ||
| ENST00000679148.1:n.3313T>C | ||
| ENST00000679171.1:n.2761-49T>C | ||
| ENST00000679260.1:c.399+1573T>C | ENSP00000504534.1:n.399+1573T>C | |
| ENST00000271651.7:c.400-49T>C | ENSP00000271651.3:n.400-49T>C | |
| ENST00000443913.1:c.577-49T>C | ENSP00000405083.1:n.577-49T>C | |
| ENST00000480670.1:n.240-49T>C | ||
| NM_000396.3:c.400-49T>C | NP_000387.1:n.400-49T>C | |
| NM_000396.4:c.400-49T>C MANE Select | NP_000387.1:n.400-49T>C |