Linked Data
ClinVar Variation Id:
377858
ClinVar RCV Id:
RCV000430068
RCV000461304
RCV001116929
RCV001116931
RCV001116928
RCV001537838
RCV001116930
RCV001116932
RCV001116933
RCV001120211
dbSNP Id:
rs149133920
ExAC:
15:48800795 A / G
gnomAD v2:
15-48800795-A-G
gnomAD v3:
15-48508598-A-G
gnomAD v4:
15-48508598-A-G
PubMed:
PMID:12402346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48508598A>G , CM000677.2:g.48508598A>G | GRCh38 |
| NC_000015.9:g.48800795A>G , CM000677.1:g.48800795A>G | GRCh37 |
| NC_000015.8:g.46588087A>G | NCBI36 |
| NG_008805.2:g.142191T>C , LRG_778:g.142191T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1821T>C | ENSP00000453958.2:p.Asp607= | |
| ENST00000674301.2:c.1821T>C | ENSP00000501333.2:p.Asp607= | |
| ENST00000684448.1:n.495T>C | ||
| ENST00000316623.10:c.1821T>C MANE Select | ENSP00000325527.5:p.Asp607= | |
| ENST00000316623.9:c.1821T>C | ENSP00000325527.5:p.Asp607= | |
| ENST00000537463.6:c.636+29113T>C | ENSP00000440294.2:n.636+29113T>C | |
| NM_000138.4:c.1821T>C , LRG_778t1:c.1821T>C | NP_000129.3:p.Asp607= | |
| NM_000138.5:c.1821T>C MANE Select | NP_000129.3:p.Asp607= |