Linked Data
ClinVar Variation Id:
42367
ClinVar RCV Id:
RCV000035207
RCV000307321
RCV000268396
RCV000303714
RCV000396472
RCV000323350
RCV000358405
RCV000366645
RCV000354806
RCV000559382
RCV001509492
RCV004534731
dbSNP Id:
rs183306990
ExAC:
15:48760242 G / A
gnomAD v2:
15-48760242-G-A
gnomAD v3:
15-48468045-G-A
gnomAD v4:
15-48468045-G-A
ERepo:
CA015264/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468045G>A , CM000677.2:g.48468045G>A | GRCh38 |
| NC_000015.9:g.48760242G>A , CM000677.1:g.48760242G>A | GRCh37 |
| NC_000015.8:g.46547534G>A | NCBI36 |
| NG_008805.2:g.182744C>T , LRG_778:g.182744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4640C>T | ENSP00000453958.2:p.Thr1547Ile | |
| ENST00000674301.2:c.4640C>T | ENSP00000501333.2:p.Thr1547Ile | |
| ENST00000684448.1:n.3314C>T | ||
| ENST00000316623.10:c.4640C>T MANE Select | ENSP00000325527.5:p.Thr1547Ile | |
| ENST00000316623.9:c.4640C>T | ENSP00000325527.5:p.Thr1547Ile | |
| ENST00000537463.6:c.*403C>T | ENSP00000440294.2:n.*403C>T | |
| NM_000138.4:c.4640C>T , LRG_778t1:c.4640C>T | NP_000129.3:p.Thr1547Ile | |
| NM_000138.5:c.4640C>T MANE Select | NP_000129.3:p.Thr1547Ile |