Linked Data
ClinVar Variation Id:
139620
ClinVar RCV Id:
RCV000128563
dbSNP Id:
rs587777511
PubMed:
PMID:24906020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150583181G>A , CM000666.2:g.150583181G>A | GRCh38 |
| NC_000004.11:g.151504333G>A , CM000666.1:g.151504333G>A | GRCh37 |
| NC_000004.10:g.151723783G>A | NCBI36 |
| NG_032855.1:g.437317C>T | |
| NG_042314.1:g.6257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651695.2:c.6330+4867C>T (LRBA) | ENSP00000498254.2:n.6330+4867C>T | |
| ENST00000697128.1:c.682+4867C>T (LRBA) | ||
| ENST00000317605.6:c.152G>A (MAB21L2) MANE Select | ENSP00000324701.4:p.Arg51His | |
| ENST00000357115.9:c.6363+4867C>T (LRBA) | ENSP00000349629.3:n.6363+4867C>T | |
| ENST00000648626.1:n.816C>T (LRBA) | ||
| ENST00000651035.1:c.*691+4867C>T (LRBA) | ENSP00000498673.1:n.*691+4867C>T | |
| ENST00000651695.1:c.4044+4867C>T (LRBA) | ENSP00000498254.1:n.4044+4867C>T | |
| ENST00000651943.2:c.6330+4867C>T (LRBA) MANE Select | ENSP00000498582.2:n.6330+4867C>T | |
| ENST00000317605.5:c.152G>A (MAB21L2) | ENSP00000324701.4:p.Arg51His | |
| ENST00000357115.7:c.6363+4867C>T (LRBA) | ENSP00000349629.3:n.6363+4867C>T | |
| ENST00000507224.5:c.6330+4867C>T (LRBA) | ENSP00000422180.1:n.6330+4867C>T | |
| ENST00000509835.5:c.2288+4867C>T (LRBA) | ||
| ENST00000510413.5:c.6330+4867C>T (LRBA) | ENSP00000421552.1:n.6330+4867C>T | |
| ENST00000513021.1:n.489+4867C>T (LRBA) | ||
| NM_001199282.2:c.6330+4867C>T (LRBA) | NP_001186211.2:n.6330+4867C>T | |
| NM_006439.4:c.152G>A (MAB21L2) | NP_006430.1:p.Arg51His | |
| NM_006726.4:c.6363+4867C>T (LRBA) | NP_006717.2:n.6363+4867C>T | |
| XM_005263372.2:c.6363+4867C>T (LRBA) | XP_005263429.1:n.6363+4867C>T | |
| XM_005263373.1:c.6363+4867C>T (LRBA) | XP_005263430.1:n.6363+4867C>T | |
| XM_005263374.2:c.6330+4867C>T (LRBA) | XP_005263431.1:n.6330+4867C>T | |
| XM_005263375.2:c.6330+4867C>T (LRBA) | XP_005263432.1:n.6330+4867C>T | |
| XM_011532434.1:c.6363+4867C>T (LRBA) | XP_011530736.1:n.6363+4867C>T | |
| NM_001364905.1:c.6330+4867C>T (LRBA) MANE Select | NP_001351834.1:n.6330+4867C>T | |
| XM_005263372.3:c.6363+4867C>T (LRBA) | XP_005263429.1:n.6363+4867C>T | |
| XM_005263373.3:c.6363+4867C>T (LRBA) | XP_005263430.1:n.6363+4867C>T | |
| XM_005263374.3:c.6330+4867C>T (LRBA) | XP_005263431.1:n.6330+4867C>T | |
| XM_011532434.2:c.6363+4867C>T (LRBA) | XP_011530736.1:n.6363+4867C>T | |
| XM_017008872.2:c.6330+4867C>T (LRBA) | XP_016864361.1:n.6330+4867C>T | |
| NM_001367550.1:c.6330+4867C>T (LRBA) | NP_001354479.1:n.6330+4867C>T | |
| NM_006439.5:c.152G>A (MAB21L2) MANE Select | NP_006430.1:p.Arg51His |