Linked Data
ClinVar Variation Id:
48564
ClinVar RCV Id:
RCV000041890
RCV000408647
RCV000675152
RCV000504825
RCV001075204
RCV004537156
RCV001826599
dbSNP Id:
rs397518026
ExAC:
1:216538426 A / T
gnomAD v2:
1-216538426-A-T
gnomAD v3:
1-216365084-A-T
gnomAD v4:
1-216365084-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216365084A>T , CM000663.2:g.216365084A>T | GRCh38 |
| NC_000001.10:g.216538426A>T , CM000663.1:g.216538426A>T | GRCh37 |
| NC_000001.9:g.214605049A>T | NCBI36 |
| NG_009497.1:g.63313T>A | |
| NG_009497.2:g.63365T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.653T>A MANE Select | ENSP00000305941.3:p.Val218Glu | |
| ENST00000674083.1:c.653T>A | ENSP00000501296.1:p.Val218Glu | |
| ENST00000307340.7:c.653T>A | ENSP00000305941.3:p.Val218Glu | |
| ENST00000366942.3:c.653T>A | ENSP00000355909.3:p.Val218Glu | |
| NM_007123.5:c.653T>A | NP_009054.5:p.Val218Glu | |
| NM_206933.2:c.653T>A | NP_996816.2:p.Val218Glu | |
| NM_206933.3:c.653T>A | NP_996816.2:p.Val218Glu | |
| NM_007123.6:c.653T>A | NP_009054.6:p.Val218Glu | |
| NM_206933.4:c.653T>A MANE Select | NP_996816.3:p.Val218Glu |