Linked Data
ClinVar Variation Id:
2202394
ClinVar RCV Id:
RCV002647971
dbSNP Id:
rs1246751632
gnomAD v3:
7-103523445-T-C
gnomAD v4:
7-103523445-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523445T>C , CM000669.2:g.103523445T>C | GRCh38 |
| NC_000007.13:g.103163892T>C , CM000669.1:g.103163892T>C | GRCh37 |
| NC_000007.12:g.102951128T>C | NCBI36 |
| NG_011877.1:g.471072A>G | |
| NG_011877.2:g.471072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7436A>G | ENSP00000388446.3:p.Asp2479Gly | |
| ENST00000428762.6:c.7436A>G MANE Select | ENSP00000392423.1:p.Asp2479Gly | |
| ENST00000478148.2:n.677A>G | ||
| ENST00000679867.1:n.7320A>G | ||
| ENST00000679952.1:n.1364A>G | ||
| ENST00000681034.1:c.7436A>G | ENSP00000506075.1:p.Asp2479Gly | |
| ENST00000681364.1:n.685A>G | ||
| ENST00000343529.9:c.7436A>G | ENSP00000345694.5:p.Asp2479Gly | |
| ENST00000424685.2:c.7436A>G | ENSP00000388446.2:p.Asp2479Gly | |
| ENST00000428762.5:c.7436A>G | ENSP00000392423.1:p.Asp2479Gly | |
| NM_005045.3:c.7436A>G | NP_005036.2:p.Asp2479Gly | |
| NM_173054.2:c.7436A>G | NP_774959.1:p.Asp2479Gly | |
| NM_005045.4:c.7436A>G MANE Select | NP_005036.2:p.Asp2479Gly | |
| NM_173054.3:c.7436A>G | NP_774959.1:p.Asp2479Gly |