Linked Data
dbSNP Id:
rs766438385
ExAC:
8:65528654 T / C
gnomAD v2:
8-65528654-T-C
gnomAD v4:
8-64616097-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616097T>C , CM000670.2:g.64616097T>C | GRCh38 |
| NC_000008.10:g.65528654T>C , CM000670.1:g.65528654T>C | GRCh37 |
| NC_000008.9:g.65691208T>C | NCBI36 |
| NG_008338.1:g.187695A>G | |
| NG_008338.2:g.187695A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.444A>G MANE Select | ENSP00000310721.3:p.Lys148= | |
| ENST00000310193.3:c.444A>G | ENSP00000310721.3:p.Lys148= | |
| NM_004820.3:c.444A>G | NP_004811.1:p.Lys148= | |
| NM_001324112.1:c.444A>G | NP_001311041.1:p.Lys148= | |
| NM_004820.4:c.444A>G | NP_004811.1:p.Lys148= | |
| XM_017014002.1:c.510A>G | XP_016869491.1:p.Lys170= | |
| NM_004820.5:c.444A>G MANE Select | NP_004811.1:p.Lys148= | |
| NM_001324112.2:c.444A>G | NP_001311041.1:p.Lys148= |