Linked Data
ClinVar Variation Id:
1616549
ClinVar RCV Id:
RCV002074949
dbSNP Id:
rs144228112
ExAC:
17:12896198 C / G
gnomAD v2:
17-12896198-C-G
gnomAD v3:
17-12992881-C-G
gnomAD v4:
17-12992881-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992881C>G , CM000679.2:g.12992881C>G | GRCh38 |
| NC_000017.10:g.12896198C>G , CM000679.1:g.12896198C>G | GRCh37 |
| NC_000017.9:g.12836923C>G | NCBI36 |
| NG_015808.1:g.30184G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2418G>C MANE Select | ENSP00000337445.4:p.Gly806= | |
| ENST00000338034.8:c.2418G>C | ENSP00000337445.4:p.Gly806= | |
| ENST00000395962.6:c.2361G>C | ENSP00000379291.1:p.Gly787= | |
| ENST00000426905.7:c.2298G>C | ENSP00000405223.3:p.Gly766= | |
| ENST00000465825.5:n.2305G>C | ||
| ENST00000480891.5:n.2247G>C | ||
| ENST00000484122.5:n.3248G>C | ||
| ENST00000487229.6:n.1964G>C | ||
| ENST00000584650.5:c.1817G>C | ||
| NM_001165962.1:c.2298G>C | NP_001159434.1:p.Gly766= | |
| NM_018127.6:c.2418G>C | NP_060597.4:p.Gly806= | |
| NM_173717.1:c.2415G>C | NP_776065.1:p.Gly805= | |
| XM_024450850.1:c.2577G>C | XP_024306618.1:p.Gly859= | |
| XM_024450851.1:c.2499G>C | XP_024306619.1:p.Gly833= | |
| XM_024450852.1:c.2496G>C | XP_024306620.1:p.Gly832= | |
| XM_024450853.1:c.2493G>C | XP_024306621.1:p.Gly831= | |
| XM_024450854.1:c.2457G>C | XP_024306622.1:p.Gly819= | |
| XM_024450855.1:c.2376G>C | XP_024306623.1:p.Gly792= | |
| XM_024450856.1:c.2295G>C | XP_024306624.1:p.Gly765= | |
| XM_024450857.1:c.2295G>C | XP_024306625.1:p.Gly765= | |
| XM_024450858.1:c.2214G>C | XP_024306626.1:p.Gly738= | |
| XM_024450859.1:c.2211G>C | XP_024306627.1:p.Gly737= | |
| XM_024450860.1:c.2136G>C | XP_024306628.1:p.Gly712= | |
| XM_024450861.1:c.2136G>C | XP_024306629.1:p.Gly712= | |
| XM_024450862.1:c.2133G>C | XP_024306630.1:p.Gly711= | |
| NM_018127.7:c.2418G>C MANE Select | NP_060597.4:p.Gly806= | |
| NM_001165962.2:c.2298G>C | NP_001159434.1:p.Gly766= | |
| NM_173717.2:c.2415G>C | NP_776065.1:p.Gly805= |