Linked Data
dbSNP Id:
rs776885195
ExAC:
16:55517019 A / G
gnomAD v2:
16-55517019-A-G
gnomAD v3:
16-55483107-A-G
gnomAD v4:
16-55483107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55483107A>G , CM000678.2:g.55483107A>G | GRCh38 |
| NC_000016.9:g.55517019A>G , CM000678.1:g.55517019A>G | GRCh37 |
| NC_000016.8:g.54074520A>G | NCBI36 |
| NG_008989.1:g.8939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.352A>G MANE Select | ENSP00000219070.4:p.Lys118Glu | |
| ENST00000219070.8:c.352A>G | ENSP00000219070.4:p.Lys118Glu | |
| ENST00000437642.6:c.202A>G | ENSP00000394237.2:p.Lys68Glu | |
| ENST00000543485.5:c.124A>G | ENSP00000444143.1:p.Lys42Glu | |
| ENST00000564864.5:c.124A>G | ENSP00000456096.1:p.Lys42Glu | |
| ENST00000568715.5:c.124A>G | ENSP00000457949.1:p.Lys42Glu | |
| ENST00000570308.5:c.124A>G | ENSP00000461421.1:p.Lys42Glu | |
| NM_001127891.2:c.202A>G | NP_001121363.1:p.Lys68Glu | |
| NM_001302508.1:c.124A>G | NP_001289437.1:p.Lys42Glu | |
| NM_001302509.1:c.124A>G | NP_001289438.1:p.Lys42Glu | |
| NM_001302510.1:c.124A>G | NP_001289439.1:p.Lys42Glu | |
| NM_004530.5:c.352A>G | NP_004521.1:p.Lys118Glu | |
| NM_004530.6:c.352A>G MANE Select | NP_004521.1:p.Lys118Glu | |
| NM_001127891.3:c.202A>G | NP_001121363.1:p.Lys68Glu | |
| NM_001302509.2:c.124A>G | NP_001289438.1:p.Lys42Glu | |
| NM_001302510.2:c.124A>G | NP_001289439.1:p.Lys42Glu |