Linked Data
ClinVar Variation Id:
2417771
ClinVar RCV Id:
RCV003117880
dbSNP Id:
rs780370644
ExAC:
7:103185787 C / T
gnomAD v2:
7-103185787-C-T
gnomAD v3:
7-103545340-C-T
gnomAD v4:
7-103545340-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545340C>T , CM000669.2:g.103545340C>T | GRCh38 |
| NC_000007.13:g.103185787C>T , CM000669.1:g.103185787C>T | GRCh37 |
| NC_000007.12:g.102973023C>T | NCBI36 |
| NG_011877.1:g.449177G>A | |
| NG_011877.2:g.449177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6307G>A | ENSP00000388446.3:p.Val2103Ile | |
| ENST00000428762.6:c.6307G>A MANE Select | ENSP00000392423.1:p.Val2103Ile | |
| ENST00000679867.1:n.6191G>A | ||
| ENST00000679952.1:n.99G>A | ||
| ENST00000681034.1:c.6307G>A | ENSP00000506075.1:p.Val2103Ile | |
| ENST00000681199.1:n.2075G>A | ||
| ENST00000343529.9:c.6307G>A | ENSP00000345694.5:p.Val2103Ile | |
| ENST00000424685.2:c.6307G>A | ENSP00000388446.2:p.Val2103Ile | |
| ENST00000428762.5:c.6307G>A | ENSP00000392423.1:p.Val2103Ile | |
| NM_005045.3:c.6307G>A | NP_005036.2:p.Val2103Ile | |
| NM_173054.2:c.6307G>A | NP_774959.1:p.Val2103Ile | |
| NM_005045.4:c.6307G>A MANE Select | NP_005036.2:p.Val2103Ile | |
| NM_173054.3:c.6307G>A | NP_774959.1:p.Val2103Ile |