Linked Data
ClinVar Variation Id:
785362
ClinVar RCV Id:
RCV000967215
dbSNP Id:
rs11227461
ExAC:
11:66100001 C / T
gnomAD v2:
11-66100001-C-T
gnomAD v3:
11-66332530-C-T
gnomAD v4:
11-66332530-C-T
COSMIC:
COSM4035675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66332530C>T , CM000673.2:g.66332530C>T | GRCh38 |
| NC_000011.9:g.66100001C>T , CM000673.1:g.66100001C>T | GRCh37 |
| NC_000011.8:g.65856577C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311320.9:c.2098G>A MANE Select | ENSP00000310406.4:p.Val700Ile | |
| ENST00000311320.8:c.2098G>A | ENSP00000310406.4:p.Val700Ile | |
| ENST00000526246.5:n.2128G>A | ||
| ENST00000530056.1:c.1600G>A | ENSP00000432798.1:p.Val534Ile | |
| ENST00000534824.5:c.1514G>A | ||
| NM_004292.2:c.2098G>A | NP_004283.2:p.Val700Ile | |
| XM_011545399.1:c.2014G>A | XP_011543701.1:p.Val672Ile | |
| XM_011545400.1:c.1912G>A | XP_011543702.1:p.Val638Ile | |
| XM_011545401.1:c.1855G>A | XP_011543703.1:p.Val619Ile | |
| NM_001363559.1:c.2014G>A | NP_001350488.1:p.Val672Ile | |
| NM_001363560.1:c.1912G>A | NP_001350489.1:p.Val638Ile | |
| XM_017018587.1:c.1915G>A | XP_016874076.1:p.Val639Ile | |
| NM_004292.3:c.2098G>A MANE Select | NP_004283.2:p.Val700Ile | |
| NM_001363559.2:c.2014G>A | NP_001350488.1:p.Val672Ile | |
| NM_001363560.2:c.1912G>A | NP_001350489.1:p.Val638Ile |