Linked Data
dbSNP Id:
rs1481730546
gnomAD v2:
17-1554510-T-C
gnomAD v3:
17-1651216-T-C
gnomAD v4:
17-1651216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651216T>C , CM000679.2:g.1651216T>C | GRCh38 |
| NC_000017.10:g.1554510T>C , CM000679.1:g.1554510T>C | GRCh37 |
| NC_000017.9:g.1501260T>C | NCBI36 |
| NG_009118.1:g.38667A>G | |
| NG_033061.1:g.3883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6565A>G | ENSP00000460849.2:p.Lys2189Glu | |
| ENST00000703537.1:c.2493A>G | ||
| ENST00000703538.1:c.*6468A>G | ENSP00000515361.1:n.*6468A>G | |
| ENST00000703539.1:n.3059A>G | ||
| ENST00000703540.1:c.6598A>G | ENSP00000515362.1:p.Lys2200Glu | |
| ENST00000703541.1:c.6610A>G | ENSP00000515363.1:p.Lys2204Glu | |
| ENST00000304992.11:c.6745A>G MANE Select | ENSP00000304350.6:p.Lys2249Glu | |
| ENST00000304992.10:c.6745A>G | ENSP00000304350.6:p.Lys2249Glu | |
| ENST00000571958.1:c.54A>G | ||
| ENST00000572621.5:c.6745A>G | ENSP00000460348.1:p.Lys2249Glu | |
| ENST00000572723.1:n.734A>G | ||
| NM_006445.3:c.6745A>G | NP_006436.3:p.Lys2249Glu | |
| XM_024450537.1:c.6745A>G | XP_024306305.1:p.Lys2249Glu | |
| NM_006445.4:c.6745A>G MANE Select | NP_006436.3:p.Lys2249Glu |