Linked Data
dbSNP Id:
rs1018596545
gnomAD v2:
4-72624165-A-C
gnomAD v3:
4-71758448-A-C
gnomAD v4:
4-71758448-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71758448A>C , CM000666.2:g.71758448A>C | GRCh38 |
| NC_000004.11:g.72624165A>C , CM000666.1:g.72624165A>C | GRCh37 |
| NC_000004.10:g.72843029A>C | NCBI36 |
| NG_012837.2:g.52073T>G | |
| NG_012837.3:g.52073T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.702-277T>G MANE Select | ENSP00000273951.8:n.702-277T>G | |
| ENST00000273951.12:c.702-277T>G | ENSP00000273951.8:n.702-277T>G | |
| ENST00000503472.5:n.586-277T>G | ||
| ENST00000504199.5:c.759-277T>G | ENSP00000421725.1:n.759-277T>G | |
| ENST00000509740.5:c.702-277T>G | ENSP00000422664.1:n.702-277T>G | |
| ENST00000513476.5:c.702-277T>G | ENSP00000426683.1:n.702-277T>G | |
| NM_000583.3:c.702-277T>G | NP_000574.2:n.702-277T>G | |
| NM_001204306.1:c.702-277T>G | NP_001191235.1:n.702-277T>G | |
| NM_001204307.1:c.759-277T>G | NP_001191236.1:n.759-277T>G | |
| XM_006714177.2:c.702-277T>G | XP_006714240.1:n.702-277T>G | |
| XM_006714177.3:c.702-277T>G | XP_006714240.1:n.702-277T>G | |
| NM_000583.4:c.702-277T>G MANE Select | NP_000574.2:n.702-277T>G |