Linked Data
ClinVar Variation Id:
550419
dbSNP Id:
rs746071929
ExAC:
1:216420083 G / A
gnomAD v2:
1-216420083-G-A
gnomAD v3:
1-216246741-G-A
gnomAD v4:
1-216246741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246741G>A , CM000663.2:g.216246741G>A | GRCh38 |
| NC_000001.10:g.216420083G>A , CM000663.1:g.216420083G>A | GRCh37 |
| NC_000001.9:g.214486706G>A | NCBI36 |
| NG_009497.1:g.181656C>T | |
| NG_009497.2:g.181708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2653C>T MANE Select | ENSP00000305941.3:p.His885Tyr | |
| ENST00000674083.1:c.2653C>T | ENSP00000501296.1:p.His885Tyr | |
| ENST00000307340.7:c.2653C>T | ENSP00000305941.3:p.His885Tyr | |
| ENST00000366942.3:c.2653C>T | ENSP00000355909.3:p.His885Tyr | |
| NM_007123.5:c.2653C>T | NP_009054.5:p.His885Tyr | |
| NM_206933.2:c.2653C>T | NP_996816.2:p.His885Tyr | |
| NM_206933.3:c.2653C>T | NP_996816.2:p.His885Tyr | |
| NM_007123.6:c.2653C>T | NP_009054.6:p.His885Tyr | |
| NM_206933.4:c.2653C>T MANE Select | NP_996816.3:p.His885Tyr |