Linked Data
ClinVar Variation Id:
188089
ClinVar RCV Id:
RCV000237055
RCV000713265
RCV001082893
RCV000789576
RCV000987610
RCV001157181
RCV002453563
RCV004535140
dbSNP Id:
rs146920285
ExAC:
5:148384455 T / A
gnomAD v2:
5-148384455-T-A
gnomAD v3:
5-149004892-T-A
gnomAD v4:
5-149004892-T-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149004892T>A , CM000667.2:g.149004892T>A | GRCh38 |
| NC_000005.9:g.148384455T>A , CM000667.1:g.148384455T>A | GRCh37 |
| NC_000005.8:g.148364648T>A | NCBI36 |
| NG_007947.2:g.63283A>T , LRG_269:g.63283A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4539A>T | ||
| ENST00000515425.6:c.3686A>T MANE Select | ENSP00000423660.1:p.Asp1229Val | |
| ENST00000643113.1:c.151-1050A>T | ||
| ENST00000675793.1:c.*4743A>T | ENSP00000502039.1:n.*4743A>T | |
| ENST00000323829.9:c.*3074A>T | ENSP00000313025.5:n.*3074A>T | |
| ENST00000502274.1:c.272A>T | ENSP00000421092.1:p.Asp91Val | |
| ENST00000504517.5:c.3208A>T | ENSP00000421779.1:n.3208A>T | |
| ENST00000504690.5:c.3676-1050A>T | ENSP00000425627.1:n.3676-1050A>T | |
| ENST00000510350.1:n.231+1989A>T | ||
| ENST00000510779.1:c.2736A>T | ||
| ENST00000512049.5:c.3665A>T | ENSP00000421860.1:p.Asp1222Val | |
| ENST00000515229.5:n.338-1050A>T | ||
| ENST00000515425.5:c.3686A>T | ENSP00000423660.1:p.Asp1229Val | |
| NM_024577.3:c.3686A>T , LRG_269t1:c.3686A>T | NP_078853.2:p.Asp1229Val | |
| NM_024577.4:c.3686A>T MANE Select | NP_078853.2:p.Asp1229Val |