Linked Data
dbSNP Id:
rs371004989
ExAC:
1:206224633 A / G
gnomAD v2:
1-206224633-A-G
gnomAD v3:
1-206116698-T-C
gnomAD v4:
1-206116698-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116698T>C , CM000663.2:g.206116698T>C | GRCh38 |
| NC_000001.10:g.206224633A>G , CM000663.1:g.206224633A>G | GRCh37 |
| NC_000001.9:g.204391256A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.193A>G MANE Select | ENSP00000356094.4:p.Lys65Glu | |
| ENST00000367126.4:c.193A>G | ENSP00000356094.4:p.Lys65Glu | |
| ENST00000612906.1:n.36+966A>G | ||
| NM_000707.3:c.193A>G | NP_000698.1:p.Lys65Glu | |
| NM_000707.4:c.193A>G | NP_000698.1:p.Lys65Glu | |
| NM_000707.5:c.193A>G MANE Select | NP_000698.1:p.Lys65Glu |