Linked Data
ClinVar Variation Id:
2120171
ClinVar RCV Id:
RCV003059249
dbSNP Id:
rs754159096
ExAC:
1:204159775 C / T
gnomAD v2:
1-204159775-C-T
gnomAD v4:
1-204190647-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190647C>T , CM000663.2:g.204190647C>T | GRCh38 |
| NC_000001.10:g.204159775C>T , CM000663.1:g.204159775C>T | GRCh37 |
| NC_000001.9:g.202426398C>T | NCBI36 |
| NG_032151.1:g.10845G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.254G>A MANE Select | ENSP00000356162.4:p.Gly85Asp | |
| ENST00000367194.4:c.254G>A | ENSP00000356162.4:p.Gly85Asp | |
| ENST00000625357.1:c.254G>A | ENSP00000485957.1:p.Gly85Asp | |
| NM_002256.3:c.254G>A | NP_002247.3:p.Gly85Asp | |
| XM_011509525.1:c.254G>A | XP_011507827.1:p.Gly85Asp | |
| NM_002256.4:c.254G>A MANE Select | NP_002247.3:p.Gly85Asp |