Linked Data
ClinVar Variation Id:
2228344
ClinVar RCV Id:
RCV004093379
dbSNP Id:
rs749497107
ExAC:
6:127767569 G / A
gnomAD v2:
6-127767569-G-A
gnomAD v3:
6-127446424-G-A
gnomAD v4:
6-127446424-G-A
COSMIC:
COSM3171906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.127446424G>A , CM000668.2:g.127446424G>A | GRCh38 |
| NC_000006.11:g.127767569G>A , CM000668.1:g.127767569G>A | GRCh37 |
| NC_000006.10:g.127809262G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483725.8:c.1895C>T (KIAA0408) MANE Select | ENSP00000435150.2:p.Pro632Leu | |
| ENST00000368281.1:n.2624C>T (KIAA0408) | ||
| ENST00000465254.2:c.214+448C>T (KIAA0408) | ENSP00000436178.1:n.214+448C>T | |
| ENST00000473298.6:c.3090C>T | ||
| ENST00000481848.6:c.*2216C>T | ENSP00000455908.1:n.*2216C>T | |
| ENST00000483725.7:c.1895C>T (KIAA0408) | ENSP00000435150.2:p.Pro632Leu | |
| NM_001012279.2:c.*2216C>T (MTCL3) | NP_001012279.1:n.*2216C>T | |
| NM_014702.4:c.1895C>T (KIAA0408) | NP_055517.3:p.Pro632Leu | |
| NM_014702.5:c.1895C>T (KIAA0408) MANE Select | NP_055517.3:p.Pro632Leu | |
| NM_001012279.3:c.*2216C>T (MTCL3) | NP_001012279.1:n.*2216C>T | |
| NR_174482.1:n.5941C>T |