Linked Data
ClinVar Variation Id:
346976
dbSNP Id:
rs11921054
ExAC:
3:98304403 G / A
gnomAD v2:
3-98304403-G-A
gnomAD v3:
3-98585559-G-A
gnomAD v4:
3-98585559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585559G>A , CM000665.2:g.98585559G>A | GRCh38 |
| NC_000003.11:g.98304403G>A , CM000665.1:g.98304403G>A | GRCh37 |
| NC_000003.10:g.99787093G>A | NCBI36 |
| NG_015994.1:g.13053C>T | |
| NG_015994.2:g.13053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.1054C>T MANE Select | ENSP00000497326.1:p.Arg352Cys | |
| ENST00000264193.2:c.1054C>T | ENSP00000264193.2:p.Arg352Cys | |
| ENST00000510489.1:n.304C>T | ||
| NM_000097.5:c.1054C>T | NP_000088.3:p.Arg352Cys | |
| XM_005247125.3:c.1054C>T | XP_005247182.1:p.Arg352Cys | |
| NM_000097.7:c.1054C>T MANE Select | NP_000088.3:p.Arg352Cys | |
| XM_005247125.4:c.1054C>T | XP_005247182.1:p.Arg352Cys | |
| XR_001740025.2:n.1225C>T | ||
| XR_001740026.1:n.1789C>T | ||
| XR_001740027.1:n.1329C>T | ||
| XR_001740028.1:n.1295C>T |