Linked Data
ClinVar Variation Id:
214696
dbSNP Id:
rs141719682
ExAC:
12:95397391 G / C
gnomAD v2:
12-95397391-G-C
gnomAD v3:
12-95003615-G-C
gnomAD v4:
12-95003615-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95003615G>C , CM000674.2:g.95003615G>C | GRCh38 |
| NC_000012.11:g.95397391G>C , CM000674.1:g.95397391G>C | GRCh37 |
| NC_000012.10:g.93921522G>C | NCBI36 |
| NG_032672.1:g.5099C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552205.6:c.66C>G | ENSP00000449144.2:p.Gly22= | |
| ENST00000682903.1:c.66C>G | ENSP00000507486.1:p.Gly22= | |
| ENST00000684171.1:c.66C>G | ENSP00000506808.1:p.Gly22= | |
| ENST00000684558.1:c.66C>G | ENSP00000507784.1:p.Gly22= | |
| ENST00000327772.7:c.66C>G MANE Select | ENSP00000330737.2:p.Gly22= | |
| ENST00000327772.6:c.66C>G | ENSP00000330737.2:p.Gly22= | |
| ENST00000546788.1:c.66C>G | ENSP00000448545.1:p.Gly22= | |
| ENST00000547157.1:c.66C>G | ENSP00000448846.1:p.Gly22= | |
| ENST00000547986.5:c.66C>G | ENSP00000450130.1:p.Gly22= | |
| ENST00000552205.5:c.46C>G | ||
| NM_001258338.1:c.66C>G | NP_001245267.1:p.Gly22= | |
| NM_018838.4:c.66C>G | NP_061326.1:p.Gly22= | |
| NM_018838.5:c.66C>G MANE Select | NP_061326.1:p.Gly22= | |
| NM_001258338.2:c.66C>G | NP_001245267.1:p.Gly22= |