Linked Data
ClinVar Variation Id:
2089052
ClinVar RCV Id:
RCV003011949
gnomAD v4:
8-144095919-G-C
MyVariant Identifiers:
chr8:g.145150822G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144095919G>C , CM000670.2:g.144095919G>C | GRCh38 |
| NC_000008.10:g.145150822G>C , CM000670.1:g.145150822G>C | GRCh37 |
| NC_000008.9:g.145222810G>C | NCBI36 |
| NG_033872.1:g.5885G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.216G>C MANE Select | ENSP00000317159.4:p.Ala72= | |
| ENST00000318911.4:c.216G>C | ENSP00000317159.4:p.Ala72= | |
| ENST00000528618.1:n.434G>C | ||
| ENST00000533444.1:n.881G>C | ||
| NM_001916.4:c.216G>C | NP_001907.2:p.Ala72= | |
| XM_017013102.1:c.39G>C | XP_016868591.1:p.Ala13= | |
| XM_024447072.1:c.39G>C | XP_024302840.1:p.Ala13= | |
| NM_001916.5:c.216G>C MANE Select | NP_001907.3:p.Ala72= |