Linked Data
ClinVar Variation Id:
36104
ClinVar RCV Id:
RCV000029766
RCV000035252
RCV000273547
RCV000310000
RCV000270709
RCV000659568
RCV000726908
RCV000769627
RCV001081774
RCV004532415
dbSNP Id:
rs112084407
ExAC:
15:48725102 C / T
gnomAD v2:
15-48725102-C-T
gnomAD v3:
15-48432905-C-T
gnomAD v4:
15-48432905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432905C>T , CM000677.2:g.48432905C>T | GRCh38 |
| NC_000015.9:g.48725102C>T , CM000677.1:g.48725102C>T | GRCh37 |
| NC_000015.8:g.46512394C>T | NCBI36 |
| NG_008805.2:g.217884G>A , LRG_778:g.217884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6700G>A | ENSP00000453958.2:p.Val2234Met | |
| ENST00000674301.2:c.*151G>A | ENSP00000501333.2:n.*151G>A | |
| ENST00000682170.1:n.309G>A | ||
| ENST00000316623.10:c.6700G>A MANE Select | ENSP00000325527.5:p.Val2234Met | |
| ENST00000674301.1:c.1804G>A | ENSP00000501333.1:n.1804G>A | |
| ENST00000316623.9:c.6700G>A | ENSP00000325527.5:p.Val2234Met | |
| ENST00000537463.6:c.*2463G>A | ENSP00000440294.2:n.*2463G>A | |
| ENST00000559133.5:c.2007G>A | ||
| NM_000138.4:c.6700G>A , LRG_778t1:c.6700G>A | NP_000129.3:p.Val2234Met | |
| NM_000138.5:c.6700G>A MANE Select | NP_000129.3:p.Val2234Met |