Linked Data
dbSNP Id:
rs1294418593
gnomAD v2:
1-150776774-T-C
gnomAD v3:
1-150804298-T-C
gnomAD v4:
1-150804298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804298T>C , CM000663.2:g.150804298T>C | GRCh38 |
| NC_000001.10:g.150776774T>C , CM000663.1:g.150776774T>C | GRCh37 |
| NC_000001.9:g.149043398T>C | NCBI36 |
| NG_011848.1:g.9039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.400-59A>G MANE Select | ENSP00000271651.3:n.400-59A>G | |
| ENST00000443913.2:c.577-59A>G | ENSP00000405083.2:n.577-59A>G | |
| ENST00000480670.2:n.3469-59A>G | ||
| ENST00000676680.1:c.400-59A>G | ENSP00000503270.1:n.400-59A>G | |
| ENST00000676716.1:c.277-59A>G | ENSP00000504737.1:n.277-59A>G | |
| ENST00000676751.1:c.400-59A>G | ENSP00000502964.1:n.400-59A>G | |
| ENST00000676824.1:c.400-59A>G | ENSP00000504176.1:n.400-59A>G | |
| ENST00000676966.1:c.400-59A>G | ENSP00000503723.1:n.400-59A>G | |
| ENST00000676970.1:c.400-59A>G | ENSP00000503832.1:n.400-59A>G | |
| ENST00000677330.1:n.2226-59A>G | ||
| ENST00000677611.1:n.252-59A>G | ||
| ENST00000677887.1:c.442-59A>G | ENSP00000503876.1:n.442-59A>G | |
| ENST00000678275.1:c.*292-59A>G | ENSP00000504796.1:n.*292-59A>G | |
| ENST00000678337.1:c.436-59A>G | ENSP00000504759.1:n.436-59A>G | |
| ENST00000678725.1:n.1377-59A>G | ||
| ENST00000679090.1:n.985-59A>G | ||
| ENST00000679148.1:n.3303A>G | ||
| ENST00000679171.1:n.2761-59A>G | ||
| ENST00000679260.1:c.399+1563A>G | ENSP00000504534.1:n.399+1563A>G | |
| ENST00000271651.7:c.400-59A>G | ENSP00000271651.3:n.400-59A>G | |
| ENST00000443913.1:c.577-59A>G | ENSP00000405083.1:n.577-59A>G | |
| ENST00000480670.1:n.240-59A>G | ||
| NM_000396.3:c.400-59A>G | NP_000387.1:n.400-59A>G | |
| NM_000396.4:c.400-59A>G MANE Select | NP_000387.1:n.400-59A>G |