Linked Data
dbSNP Id:
rs1133400
ExAC:
10:134459388 A / G
gnomAD v2:
10-134459388-A-G
gnomAD v3:
10-132645884-A-G
gnomAD v4:
10-132645884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132645884A>G , CM000672.2:g.132645884A>G | GRCh38 |
| NC_000010.10:g.134459388A>G , CM000672.1:g.134459388A>G | GRCh37 |
| NC_000010.9:g.134309378A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368594.8:c.134A>G MANE Select | ENSP00000357583.3:p.Lys45Arg | |
| ENST00000342652.6:c.48A>G | ||
| ENST00000368593.7:c.134A>G | ENSP00000357582.3:p.Lys45Arg | |
| ENST00000368594.7:c.134A>G | ENSP00000357583.3:p.Lys45Arg | |
| ENST00000423490.5:c.75+37928A>G | ENSP00000390936.1:n.75+37928A>G | |
| NM_005539.3:c.134A>G | NP_005530.3:p.Lys45Arg | |
| XR_945735.1:n.447A>G | ||
| NM_005539.4:c.134A>G | NP_005530.3:p.Lys45Arg | |
| XM_017016204.1:c.-141A>G | XP_016871693.1:n.-141A>G | |
| XM_017016205.1:c.134A>G | XP_016871694.1:p.Lys45Arg | |
| XR_001747104.1:n.447A>G | ||
| NM_005539.5:c.134A>G MANE Select | NP_005530.3:p.Lys45Arg |