Linked Data
dbSNP Id:
rs919544282
gnomAD v2:
4-77199107-G-A
gnomAD v3:
4-76277954-G-A
gnomAD v4:
4-76277954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76277954G>A , CM000666.2:g.76277954G>A | GRCh38 |
| NC_000004.11:g.77199107G>A , CM000666.1:g.77199107G>A | GRCh37 |
| NC_000004.10:g.77418131G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424749.7:c.871-115G>A (FAM47E) MANE Select | ENSP00000409423.2:n.871-115G>A | |
| ENST00000651133.1:c.*253+6186G>A (FAM47E-STBD1) | ENSP00000498232.1:n.*253+6186G>A | |
| ENST00000424749.6:c.871-115G>A (FAM47E) | ENSP00000409423.2:n.871-115G>A | |
| ENST00000502320.2:n.539-115G>A (FAM47E) | ||
| ENST00000509377.1:c.*407+6186G>A (FAM47E-STBD1) | ENSP00000425528.2:n.*407+6186G>A | |
| ENST00000510197.5:c.577-115G>A (FAM47E) | ENSP00000422262.1:n.577-115G>A | |
| ENST00000510328.5:n.416-115G>A (FAM47E) | ||
| ENST00000514140.1:c.387+6186G>A (FAM47E-STBD1) | ENSP00000423044.2:n.387+6186G>A | |
| ENST00000514365.5:c.*52+14111G>A (FAM47E-STBD1) | ENSP00000424458.1:n.*52+14111G>A | |
| ENST00000515604.5:c.871-115G>A (FAM47E-STBD1) | ENSP00000422067.1:n.871-115G>A | |
| NM_001136570.2:c.871-115G>A (FAM47E) | NP_001130042.1:n.871-115G>A | |
| NM_001242936.1:c.577-115G>A (FAM47E) | NP_001229865.1:n.577-115G>A | |
| NM_001242939.1:c.871-115G>A (FAM47E-STBD1) | NP_001229868.1:n.871-115G>A | |
| XR_001741406.1:n.203-15702C>T | ||
| XR_001741407.1:n.203-15702C>T | ||
| NM_001136570.3:c.871-115G>A (FAM47E) MANE Select | NP_001130042.1:n.871-115G>A | |
| NM_001242939.2:c.871-115G>A (FAM47E-STBD1) | NP_001229868.1:n.871-115G>A |