Linked Data
dbSNP Id:
rs755301689
ExAC:
17:1554076 A / C
gnomAD v2:
17-1554076-A-C
gnomAD v4:
17-1650782-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650782A>C , CM000679.2:g.1650782A>C | GRCh38 |
| NC_000017.10:g.1554076A>C , CM000679.1:g.1554076A>C | GRCh37 |
| NC_000017.9:g.1500826A>C | NCBI36 |
| NG_009118.1:g.39101T>G | |
| NG_033061.1:g.4317T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*20T>G | ENSP00000460849.2:n.*20T>G | |
| ENST00000703537.1:c.2776T>G | ||
| ENST00000703538.1:c.*6751T>G | ENSP00000515361.1:n.*6751T>G | |
| ENST00000703539.1:n.3342T>G | ||
| ENST00000703540.1:c.*20T>G | ENSP00000515362.1:n.*20T>G | |
| ENST00000304992.11:c.*20T>G MANE Select | ENSP00000304350.6:n.*20T>G | |
| ENST00000304992.10:c.*20T>G | ENSP00000304350.6:n.*20T>G | |
| ENST00000571958.1:c.227T>G | ||
| ENST00000572621.5:c.*20T>G | ENSP00000460348.1:n.*20T>G | |
| NM_006445.3:c.*20T>G | NP_006436.3:n.*20T>G | |
| XM_024450537.1:c.*20T>G | XP_024306305.1:n.*20T>G | |
| NM_006445.4:c.*20T>G MANE Select | NP_006436.3:n.*20T>G |