Linked Data
ClinVar Variation Id:
255210
dbSNP Id:
rs6030
ExAC:
1:169498975 T / C
gnomAD v2:
1-169498975-T-C
gnomAD v3:
1-169529737-T-C
gnomAD v4:
1-169529737-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169529737T>C , CM000663.2:g.169529737T>C | GRCh38 |
| NC_000001.10:g.169498975T>C , CM000663.1:g.169498975T>C | GRCh37 |
| NC_000001.9:g.167765599T>C | NCBI36 |
| NG_011806.1:g.61795A>G , LRG_553:g.61795A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.5290A>G MANE Select | ENSP00000356771.3:p.Met1764Val | |
| ENST00000367796.3:c.5305A>G | ENSP00000356770.3:p.Met1769Val | |
| ENST00000367797.7:c.5290A>G | ENSP00000356771.3:p.Met1764Val | |
| NM_000130.4:c.5290A>G , LRG_553t1:c.5290A>G | NP_000121.2:p.Met1764Val | |
| XM_017000660.2:c.4879A>G | XP_016856149.1:p.Met1627Val | |
| NM_000130.5:c.5290A>G MANE Select | NP_000121.2:p.Met1764Val |