Linked Data
dbSNP Id:
rs944275585
gnomAD v2:
16-88785991-C-G
gnomAD v3:
16-88719583-C-G
gnomAD v4:
16-88719583-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719583C>G , CM000678.2:g.88719583C>G | GRCh38 |
| NC_000016.9:g.88785991C>G , CM000678.1:g.88785991C>G | GRCh37 |
| NC_000016.8:g.87313492C>G | NCBI36 |
| NG_042229.1:g.70638G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6462G>C MANE Select | ENSP00000301015.9:p.Glu2154Asp | |
| ENST00000466823.3:c.488G>C | ||
| ENST00000301015.13:c.6462G>C | ENSP00000301015.9:p.Glu2154Asp | |
| ENST00000419505.5:c.228G>C | ENSP00000406358.1:p.Glu76Asp | |
| ENST00000466823.2:c.488G>C | ||
| ENST00000495568.7:n.703G>C | ||
| ENST00000497793.2:n.617G>C | ||
| NM_001142864.2:c.6462G>C | NP_001136336.2:p.Glu2154Asp | |
| NM_001142864.3:c.6462G>C | NP_001136336.2:p.Glu2154Asp | |
| NM_001142864.4:c.6462G>C MANE Select | NP_001136336.2:p.Glu2154Asp |