Linked Data
ClinVar Variation Id:
316371
ClinVar RCV Id:
RCV000262510
RCV000302528
RCV000320176
RCV000333041
RCV000359544
RCV000372546
RCV000388834
RCV001496138
RCV002292524
dbSNP Id:
rs141219664
ExAC:
15:48738967 T / C
gnomAD v2:
15-48738967-T-C
gnomAD v3:
15-48446770-T-C
gnomAD v4:
15-48446770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446770T>C , CM000677.2:g.48446770T>C | GRCh38 |
| NC_000015.9:g.48738967T>C , CM000677.1:g.48738967T>C | GRCh37 |
| NC_000015.8:g.46526259T>C | NCBI36 |
| NG_008805.2:g.204019A>G , LRG_778:g.204019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5724A>G | ENSP00000453958.2:p.Thr1908= | |
| ENST00000674301.2:c.5724A>G | ENSP00000501333.2:p.Thr1908= | |
| ENST00000684448.1:n.4398A>G | ||
| ENST00000316623.10:c.5724A>G MANE Select | ENSP00000325527.5:p.Thr1908= | |
| ENST00000674301.1:c.723A>G | ENSP00000501333.1:p.Thr241= | |
| ENST00000316623.9:c.5724A>G | ENSP00000325527.5:p.Thr1908= | |
| ENST00000537463.6:c.*1487A>G | ENSP00000440294.2:n.*1487A>G | |
| ENST00000559133.5:c.1031A>G | ||
| NM_000138.4:c.5724A>G , LRG_778t1:c.5724A>G | NP_000129.3:p.Thr1908= | |
| NM_000138.5:c.5724A>G MANE Select | NP_000129.3:p.Thr1908= |