Linked Data
dbSNP Id:
rs771981727
ExAC:
17:1554054 G / C
gnomAD v2:
17-1554054-G-C
gnomAD v4:
17-1650760-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650760G>C , CM000679.2:g.1650760G>C | GRCh38 |
| NC_000017.10:g.1554054G>C , CM000679.1:g.1554054G>C | GRCh37 |
| NC_000017.9:g.1500804G>C | NCBI36 |
| NG_009118.1:g.39123C>G | |
| NG_033061.1:g.4339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*42C>G | ENSP00000460849.2:n.*42C>G | |
| ENST00000703537.1:c.2798C>G | ||
| ENST00000703538.1:c.*6773C>G | ENSP00000515361.1:n.*6773C>G | |
| ENST00000703539.1:n.3364C>G | ||
| ENST00000703540.1:c.*42C>G | ENSP00000515362.1:n.*42C>G | |
| ENST00000304992.11:c.*42C>G MANE Select | ENSP00000304350.6:n.*42C>G | |
| ENST00000304992.10:c.*42C>G | ENSP00000304350.6:n.*42C>G | |
| ENST00000571958.1:c.249C>G | ||
| ENST00000572621.5:c.*42C>G | ENSP00000460348.1:n.*42C>G | |
| NM_006445.3:c.*42C>G | NP_006436.3:n.*42C>G | |
| XM_024450537.1:c.*42C>G | XP_024306305.1:n.*42C>G | |
| NM_006445.4:c.*42C>G MANE Select | NP_006436.3:n.*42C>G |