Linked Data
ClinVar Variation Id:
306805
dbSNP Id:
rs77410031
ExAC:
12:102158196 T / C
gnomAD v2:
12-102158196-T-C
gnomAD v3:
12-101764418-T-C
gnomAD v4:
12-101764418-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764418T>C , CM000674.2:g.101764418T>C | GRCh38 |
| NC_000012.11:g.102158196T>C , CM000674.1:g.102158196T>C | GRCh37 |
| NC_000012.10:g.100682327T>C | NCBI36 |
| NG_021243.1:g.71450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2499A>G MANE Select | ENSP00000299314.7:p.Glu833= | |
| ENST00000299314.11:c.2499A>G | ENSP00000299314.7:p.Glu833= | |
| NM_024312.4:c.2499A>G | NP_077288.2:p.Glu833= | |
| XM_006719593.2:c.2499A>G | XP_006719656.1:p.Glu833= | |
| XM_011538731.1:c.2418A>G | XP_011537033.1:p.Glu806= | |
| XM_006719593.3:c.2499A>G | XP_006719656.1:p.Glu833= | |
| XM_011538731.2:c.2418A>G | XP_011537033.1:p.Glu806= | |
| XM_017019961.1:c.2283A>G | XP_016875450.1:p.Glu761= | |
| XM_017019962.2:c.1272A>G | XP_016875451.1:p.Glu424= | |
| NM_024312.5:c.2499A>G MANE Select | NP_077288.2:p.Glu833= |