Linked Data
ClinVar Variation Id:
234414
ClinVar RCV Id:
RCV000214292
RCV000355518
RCV000473910
RCV001173826
RCV001352888
RCV001095006
RCV001549281
RCV002450641
RCV004529380
dbSNP Id:
rs139192433
ExAC:
5:148388512 C / T
gnomAD v2:
5-148388512-C-T
gnomAD v3:
5-149008949-C-T
gnomAD v4:
5-149008949-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149008949C>T , CM000667.2:g.149008949C>T | GRCh38 |
| NC_000005.9:g.148388512C>T , CM000667.1:g.148388512C>T | GRCh37 |
| NC_000005.8:g.148368705C>T | NCBI36 |
| NG_007947.2:g.59226G>A , LRG_269:g.59226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3276G>A | ||
| ENST00000515425.6:c.3380G>A MANE Select | ENSP00000423660.1:p.Arg1127Gln | |
| ENST00000675793.1:c.*2664G>A | ENSP00000502039.1:n.*2664G>A | |
| ENST00000323829.9:c.*2768G>A | ENSP00000313025.5:n.*2768G>A | |
| ENST00000504517.5:c.2910G>A | ENSP00000421779.1:n.2910G>A | |
| ENST00000504690.5:c.3380G>A | ENSP00000425627.1:p.Arg1127Gln | |
| ENST00000510779.1:c.2430G>A | ||
| ENST00000512049.5:c.3359G>A | ENSP00000421860.1:p.Arg1120Gln | |
| ENST00000515229.5:n.42G>A | ||
| ENST00000515425.5:c.3380G>A | ENSP00000423660.1:p.Arg1127Gln | |
| NM_024577.3:c.3380G>A , LRG_269t1:c.3380G>A | NP_078853.2:p.Arg1127Gln | |
| NM_024577.4:c.3380G>A MANE Select | NP_078853.2:p.Arg1127Gln |