Linked Data
ClinVar Variation Id:
787590
ClinVar RCV Id:
RCV000969854
dbSNP Id:
rs140549288
ExAC:
10:91099466 G / C
gnomAD v2:
10-91099466-G-C
gnomAD v3:
10-89339709-G-C
gnomAD v4:
10-89339709-G-C
COSMIC:
COSM3998126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89339709G>C , CM000672.2:g.89339709G>C | GRCh38 |
| NC_000010.10:g.91099466G>C , CM000672.1:g.91099466G>C | GRCh37 |
| NC_000010.9:g.91089446G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371818.9:c.1054G>C (IFIT3) MANE Select | ENSP00000360883.4:p.Val352Leu | |
| ENST00000679438.1:c.-16+11631G>C (IFIT3) | ENSP00000506015.1:n.-16+11631G>C | |
| ENST00000679536.1:c.898G>C (IFIT3) | ENSP00000506550.1:p.Val300Leu | |
| ENST00000679583.1:c.898G>C (IFIT3) | ENSP00000506309.1:p.Val300Leu | |
| ENST00000679781.1:c.1054G>C (IFIT3) | ENSP00000505987.1:p.Val352Leu | |
| ENST00000679897.1:c.*1005G>C (IFIT3) | ENSP00000505943.1:n.*1005G>C | |
| ENST00000680037.1:c.898G>C (IFIT3) | ENSP00000506557.1:p.Val300Leu | |
| ENST00000680779.1:c.1135G>C (IFIT3) | ENSP00000504949.1:p.Val379Leu | |
| ENST00000681178.1:c.898G>C (IFIT3) | ENSP00000505300.1:p.Val300Leu | |
| ENST00000681207.1:c.898G>C (IFIT3) | ENSP00000506643.1:p.Val300Leu | |
| ENST00000681277.1:c.898G>C (IFIT3) | ENSP00000505695.1:p.Val300Leu | |
| ENST00000681376.1:c.898G>C (IFIT3) | ENSP00000504860.1:p.Val300Leu | |
| ENST00000282673.5:c.-2+2902C>G (LIPA) | ENSP00000282673.4:n.-2+2902C>G | |
| ENST00000371811.4:c.1054G>C (IFIT3) | ENSP00000360876.4:p.Val352Leu | |
| ENST00000371818.8:c.1054G>C (IFIT3) | ENSP00000360883.4:p.Val352Leu | |
| ENST00000371837.5:c.61+73082C>G (LIPA) | ENSP00000360903.1:n.61+73082C>G | |
| ENST00000463623.1:n.50+2852C>G (LIPA) | ||
| ENST00000487618.5:n.64+2902C>G (LIPA) | ||
| ENST00000489359.1:n.169-1421C>G (LIPA) | ||
| NM_001031683.3:c.1054G>C (IFIT3) | NP_001026853.1:p.Val352Leu | |
| NM_001289758.1:c.898G>C (IFIT3) | NP_001276687.1:p.Val300Leu | |
| NM_001289759.1:c.898G>C (IFIT3) | NP_001276688.1:p.Val300Leu | |
| NM_001549.5:c.1054G>C (IFIT3) | NP_001540.2:p.Val352Leu | |
| XR_428782.2:n.216-1421C>G | ||
| XR_946181.1:n.216-1374C>G | ||
| XR_946182.1:n.147-1374C>G | ||
| XR_946183.1:n.97-1374C>G | ||
| XR_946184.1:n.216-1374C>G | ||
| XR_946185.1:n.147-1421C>G | ||
| XR_946186.1:n.97-1421C>G | ||
| XR_946181.3:n.2454-1374C>G | ||
| XR_946182.3:n.2385-1374C>G | ||
| XR_946183.3:n.2335-1374C>G | ||
| XR_946184.2:n.2453-1374C>G | ||
| XR_946185.3:n.2385-1421C>G | ||
| NM_001549.6:c.1054G>C (IFIT3) MANE Select | NP_001540.2:p.Val352Leu | |
| NM_001031683.4:c.1054G>C (IFIT3) | NP_001026853.1:p.Val352Leu | |
| NM_001289758.2:c.898G>C (IFIT3) | NP_001276687.1:p.Val300Leu | |
| NM_001289759.2:c.898G>C (IFIT3) | NP_001276688.1:p.Val300Leu |