Linked Data
ClinVar Variation Id:
285255
dbSNP Id:
rs144387303
ExAC:
7:103185636 C / T
gnomAD v2:
7-103185636-C-T
gnomAD v3:
7-103545189-C-T
gnomAD v4:
7-103545189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545189C>T , CM000669.2:g.103545189C>T | GRCh38 |
| NC_000007.13:g.103185636C>T , CM000669.1:g.103185636C>T | GRCh37 |
| NC_000007.12:g.102972872C>T | NCBI36 |
| NG_011877.1:g.449328G>A | |
| NG_011877.2:g.449328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6458G>A | ENSP00000388446.3:p.Gly2153Asp | |
| ENST00000428762.6:c.6458G>A MANE Select | ENSP00000392423.1:p.Gly2153Asp | |
| ENST00000679867.1:n.6342G>A | ||
| ENST00000679952.1:n.250G>A | ||
| ENST00000681034.1:c.6458G>A | ENSP00000506075.1:p.Gly2153Asp | |
| ENST00000681199.1:n.2226G>A | ||
| ENST00000343529.9:c.6458G>A | ENSP00000345694.5:p.Gly2153Asp | |
| ENST00000424685.2:c.6458G>A | ENSP00000388446.2:p.Gly2153Asp | |
| ENST00000428762.5:c.6458G>A | ENSP00000392423.1:p.Gly2153Asp | |
| NM_005045.3:c.6458G>A | NP_005036.2:p.Gly2153Asp | |
| NM_173054.2:c.6458G>A | NP_774959.1:p.Gly2153Asp | |
| NM_005045.4:c.6458G>A MANE Select | NP_005036.2:p.Gly2153Asp | |
| NM_173054.3:c.6458G>A | NP_774959.1:p.Gly2153Asp |