Linked Data
ClinVar Variation Id:
219968
ClinVar RCV Id:
RCV000205903
RCV000429860
RCV000373351
RCV001173203
RCV001095104
RCV001711358
RCV002354576
dbSNP Id:
rs140985600
ExAC:
5:148384328 G / A
gnomAD v2:
5-148384328-G-A
gnomAD v3:
5-149004765-G-A
gnomAD v4:
5-149004765-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149004765G>A , CM000667.2:g.149004765G>A | GRCh38 |
| NC_000005.9:g.148384328G>A , CM000667.1:g.148384328G>A | GRCh37 |
| NC_000005.8:g.148364521G>A | NCBI36 |
| NG_007947.2:g.63410C>T , LRG_269:g.63410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4666C>T | ||
| ENST00000515425.6:c.3813C>T MANE Select | ENSP00000423660.1:p.Ser1271= | |
| ENST00000643113.1:c.151-923C>T | ||
| ENST00000675793.1:c.*4870C>T | ENSP00000502039.1:n.*4870C>T | |
| ENST00000323829.9:c.*3201C>T | ENSP00000313025.5:n.*3201C>T | |
| ENST00000502274.1:c.399C>T | ENSP00000421092.1:p.Ser133= | |
| ENST00000504517.5:c.3335C>T | ENSP00000421779.1:n.3335C>T | |
| ENST00000504690.5:c.3676-923C>T | ENSP00000425627.1:n.3676-923C>T | |
| ENST00000510350.1:n.231+2116C>T | ||
| ENST00000510779.1:c.2863C>T | ||
| ENST00000512049.5:c.3792C>T | ENSP00000421860.1:p.Ser1264= | |
| ENST00000515229.5:n.338-923C>T | ||
| ENST00000515425.5:c.3813C>T | ENSP00000423660.1:p.Ser1271= | |
| NM_024577.3:c.3813C>T , LRG_269t1:c.3813C>T | NP_078853.2:p.Ser1271= | |
| NM_024577.4:c.3813C>T MANE Select | NP_078853.2:p.Ser1271= |