Linked Data
dbSNP Id:
rs763162621
ExAC:
12:102179863 G / C
gnomAD v2:
12-102179863-G-C
gnomAD v3:
12-101786085-G-C
gnomAD v4:
12-101786085-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786085G>C , CM000674.2:g.101786085G>C | GRCh38 |
| NC_000012.11:g.102179863G>C , CM000674.1:g.102179863G>C | GRCh37 |
| NC_000012.10:g.100703994G>C | NCBI36 |
| NG_021243.1:g.49783C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.498C>G MANE Select | ENSP00000299314.7:p.Asp166Glu | |
| ENST00000299314.11:c.498C>G | ENSP00000299314.7:p.Asp166Glu | |
| ENST00000549940.5:c.498C>G | ENSP00000449150.1:p.Asp166Glu | |
| ENST00000550352.1:n.292C>G | ||
| ENST00000552681.1:c.132C>G | ENSP00000449217.1:p.Asp44Glu | |
| NM_024312.4:c.498C>G | NP_077288.2:p.Asp166Glu | |
| XM_006719593.2:c.498C>G | XP_006719656.1:p.Asp166Glu | |
| XM_011538731.1:c.417C>G | XP_011537033.1:p.Asp139Glu | |
| XM_006719593.3:c.498C>G | XP_006719656.1:p.Asp166Glu | |
| XM_011538731.2:c.417C>G | XP_011537033.1:p.Asp139Glu | |
| XM_017019961.1:c.282C>G | XP_016875450.1:p.Asp94Glu | |
| XM_017019962.2:c.-853C>G | XP_016875451.1:n.-853C>G | |
| NM_024312.5:c.498C>G MANE Select | NP_077288.2:p.Asp166Glu |