Linked Data
ClinVar Variation Id:
358100
dbSNP Id:
rs779447463
ExAC:
6:80201323 T / C
gnomAD v2:
6-80201323-T-C
gnomAD v4:
6-79491606-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79491606T>C , CM000668.2:g.79491606T>C | GRCh38 |
| NC_000006.11:g.80201323T>C , CM000668.1:g.80201323T>C | GRCh37 |
| NC_000006.10:g.80258042T>C | NCBI36 |
| NG_016011.1:g.50825A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1080A>G MANE Select | ENSP00000358861.4:p.Glu360= | |
| ENST00000369846.8:c.1080A>G | ENSP00000358861.4:p.Glu360= | |
| ENST00000392959.5:c.1080A>G | ENSP00000376686.1:p.Glu360= | |
| ENST00000467898.3:c.1080A>G | ENSP00000474463.1:p.Glu360= | |
| NM_001122769.2:c.1080A>G | NP_001116241.1:p.Glu360= | |
| NM_181714.3:c.1080A>G | NP_859065.2:p.Glu360= | |
| XM_005248665.3:c.1080A>G | XP_005248722.1:p.Glu360= | |
| XM_011535504.1:c.1080A>G | XP_011533806.1:p.Glu360= | |
| XM_005248665.4:c.1080A>G | XP_005248722.1:p.Glu360= | |
| NM_001122769.3:c.1080A>G MANE Select | NP_001116241.1:p.Glu360= | |
| NM_181714.4:c.1080A>G | NP_859065.2:p.Glu360= |