Linked Data
ClinVar Variation Id:
316392
ClinVar RCV Id:
RCV000260867
RCV000286834
RCV000323098
RCV000319459
RCV000323069
RCV000353385
RCV000380093
RCV000869071
dbSNP Id:
rs147481356
ExAC:
15:48892382 A / G
gnomAD v2:
15-48892382-A-G
gnomAD v3:
15-48600185-A-G
gnomAD v4:
15-48600185-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48600185A>G , CM000677.2:g.48600185A>G | GRCh38 |
| NC_000015.9:g.48892382A>G , CM000677.1:g.48892382A>G | GRCh37 |
| NC_000015.8:g.46679674A>G | NCBI36 |
| NG_008805.2:g.50604T>C , LRG_778:g.50604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.396T>C | ENSP00000453958.2:p.Asp132= | |
| ENST00000674301.2:c.396T>C | ENSP00000501333.2:p.Asp132= | |
| ENST00000316623.10:c.396T>C MANE Select | ENSP00000325527.5:p.Asp132= | |
| ENST00000316623.9:c.396T>C | ENSP00000325527.5:p.Asp132= | |
| ENST00000537463.6:c.396T>C | ENSP00000440294.2:p.Asp132= | |
| NM_000138.4:c.396T>C , LRG_778t1:c.396T>C | NP_000129.3:p.Asp132= | |
| NM_000138.5:c.396T>C MANE Select | NP_000129.3:p.Asp132= |