Linked Data
ClinVar Variation Id:
316364
ClinVar RCV Id:
RCV000290065
RCV000297567
RCV000313030
RCV000347326
RCV000382117
RCV000396029
RCV000400646
RCV000454621
RCV000766961
RCV001081111
dbSNP Id:
rs199522781
ExAC:
15:48713793 C / T
gnomAD v2:
15-48713793-C-T
gnomAD v3:
15-48421596-C-T
gnomAD v4:
15-48421596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421596C>T , CM000677.2:g.48421596C>T | GRCh38 |
| NC_000015.9:g.48713793C>T , CM000677.1:g.48713793C>T | GRCh37 |
| NC_000015.8:g.46501085C>T | NCBI36 |
| NG_008805.2:g.229193G>A , LRG_778:g.229193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*469G>A | ENSP00000453958.2:n.*469G>A | |
| ENST00000674301.2:c.*1174G>A | ENSP00000501333.2:n.*1174G>A | |
| ENST00000682170.1:n.1842G>A | ||
| ENST00000682767.1:n.958G>A | ||
| ENST00000316623.10:c.7661G>A MANE Select | ENSP00000325527.5:p.Arg2554Gln | |
| ENST00000674301.1:c.2827G>A | ENSP00000501333.1:n.2827G>A | |
| ENST00000316623.9:c.7661G>A | ENSP00000325527.5:p.Arg2554Gln | |
| ENST00000559133.5:c.3030G>A | ||
| NM_000138.4:c.7661G>A , LRG_778t1:c.7661G>A | NP_000129.3:p.Arg2554Gln | |
| NM_000138.5:c.7661G>A MANE Select | NP_000129.3:p.Arg2554Gln |