Linked Data
ClinVar Variation Id:
203970
dbSNP Id:
rs143030960
ExAC:
2:84670490 C / T
gnomAD v2:
2-84670490-C-T
gnomAD v3:
2-84443366-C-T
gnomAD v4:
2-84443366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443366C>T , CM000664.2:g.84443366C>T | GRCh38 |
| NC_000002.11:g.84670490C>T , CM000664.1:g.84670490C>T | GRCh37 |
| NC_000002.10:g.84524001C>T | NCBI36 |
| NG_016755.1:g.21097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393868.7:c.236G>A MANE Select | ENSP00000377446.2:p.Gly79Asp | |
| ENST00000651342.1:c.236G>A | ENSP00000498471.1:p.Gly79Asp | |
| ENST00000393868.6:c.236G>A | ENSP00000377446.2:p.Gly79Asp | |
| ENST00000430989.1:n.213G>A | ||
| ENST00000442240.5:c.247G>A | ||
| ENST00000483605.5:n.315G>A | ||
| ENST00000491642.5:n.408G>A | ||
| NM_003849.3:c.236G>A | NP_003840.2:p.Gly79Asp | |
| NM_003849.4:c.236G>A MANE Select | NP_003840.2:p.Gly79Asp |