Linked Data
dbSNP Id:
rs767114271
ExAC:
1:115575979 T / G
gnomAD v2:
1-115575979-T-G
gnomAD v3:
1-115033358-T-G
gnomAD v4:
1-115033358-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033358T>G , CM000663.2:g.115033358T>G | GRCh38 |
| NC_000001.10:g.115575979T>G , CM000663.1:g.115575979T>G | GRCh37 |
| NC_000001.9:g.115377502T>G | NCBI36 |
| NG_015891.1:g.8565T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256592.3:c.-1-4T>G MANE Select | ENSP00000256592.1:n.-1-4T>G | |
| ENST00000256592.2:c.-1-4T>G | ENSP00000256592.1:n.-1-4T>G | |
| NM_000549.4:c.-1-4T>G | NP_000540.2:n.-1-4T>G | |
| XM_011542065.1:c.-5T>G | XP_011540367.1:n.-5T>G | |
| XM_011542065.2:c.-5T>G | XP_011540367.1:n.-5T>G | |
| NM_000549.5:c.-1-4T>G MANE Select | NP_000540.2:n.-1-4T>G |