Linked Data
dbSNP Id:
rs776315178
ExAC:
5:36953778 A / G
gnomAD v2:
5-36953778-A-G
gnomAD v3:
5-36953676-A-G
gnomAD v4:
5-36953676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36953676A>G , CM000667.2:g.36953676A>G | GRCh38 |
| NC_000005.9:g.36953778A>G , CM000667.1:g.36953778A>G | GRCh37 |
| NC_000005.8:g.36989535A>G | NCBI36 |
| NG_006987.1:g.81794A>G | |
| NG_006987.2:g.81794A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.-21A>G MANE Select | ENSP00000282516.8:n.-21A>G | |
| ENST00000652901.1:c.-21A>G | ENSP00000499536.1:n.-21A>G | |
| ENST00000282516.12:c.-21A>G | ENSP00000282516.8:n.-21A>G | |
| ENST00000448238.2:c.-21A>G | ENSP00000406266.2:n.-21A>G | |
| ENST00000621733.1:c.-1+76654A>G | ENSP00000480694.1:n.-1+76654A>G | |
| NM_015384.4:c.-21A>G | NP_056199.2:n.-21A>G | |
| NM_133433.3:c.-21A>G | NP_597677.2:n.-21A>G | |
| XM_005248280.2:c.-21A>G | XP_005248337.1:n.-21A>G | |
| XM_006714467.2:c.-21A>G | XP_006714530.1:n.-21A>G | |
| XM_006714468.1:c.-21A>G | XP_006714531.1:n.-21A>G | |
| XM_011514014.1:c.-21A>G | XP_011512316.1:n.-21A>G | |
| XM_011514015.1:c.-21A>G | XP_011512317.1:n.-21A>G | |
| XM_005248280.3:c.-21A>G | XP_005248337.1:n.-21A>G | |
| XM_006714468.2:c.-21A>G | XP_006714531.1:n.-21A>G | |
| XM_017009329.1:c.-21A>G | XP_016864818.1:n.-21A>G | |
| XM_017009331.1:c.-21A>G | XP_016864820.1:n.-21A>G | |
| NM_133433.4:c.-21A>G MANE Select | NP_597677.2:n.-21A>G | |
| NM_015384.5:c.-21A>G | NP_056199.2:n.-21A>G |