Linked Data
ClinVar Variation Id:
16445
ClinVar RCV Id:
RCV000029787
RCV000181628
RCV000243696
RCV000279856
RCV000306003
RCV000394448
RCV000337198
RCV000399653
RCV000586191
RCV001081571
dbSNP Id:
rs61746008
ExAC:
15:48704816 G / A
gnomAD v2:
15-48704816-G-A
gnomAD v3:
15-48412619-G-A
gnomAD v4:
15-48412619-G-A
PubMed:
PMID:3536967
PMID:7738200
PMID:8563763
PMID:8941093
PMID:9817919
PMID:11700157
PMID:12651868
PMID:14598350
PMID:15241795
PMID:15598221
PMID:16222657
PMID:16273536
PMID:16333834
PMID:16571647
PMID:17253931
PMID:17657824
PMID:17701892
PMID:18435798
PMID:19059503
PMID:19293843
PMID:20375004
PMID:20591885
PMID:20979188
PMID:21594992
PMID:21594993
PMID:21683322
PMID:23133647
PMID:23278365
PMID:23506379
PMID:23608731
PMID:23891399
PMID:23897642
PMID:24039054
PMID:24564502
PMID:24635535
PMID:24665001
PMID:25101912
PMID:25637381
PMID:25736269
PMID:25812041
PMID:25979247
PMID:26026792
PMID:26787436
PMID:26875674
PMID:27582083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412619G>A , CM000677.2:g.48412619G>A | GRCh38 |
| NC_000015.9:g.48704816G>A , CM000677.1:g.48704816G>A | GRCh37 |
| NC_000015.8:g.46492108G>A | NCBI36 |
| NG_008805.2:g.238170C>T , LRG_778:g.238170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*984C>T | ENSP00000453958.2:n.*984C>T | |
| ENST00000674301.2:c.*1689C>T | ENSP00000501333.2:n.*1689C>T | |
| ENST00000682158.1:n.1557C>T | ||
| ENST00000682170.1:n.2357C>T | ||
| ENST00000682767.1:n.1473C>T | ||
| ENST00000316623.10:c.8176C>T MANE Select | ENSP00000325527.5:p.Arg2726Trp | |
| ENST00000674301.1:c.3342C>T | ENSP00000501333.1:n.3342C>T | |
| ENST00000316623.9:c.8176C>T | ENSP00000325527.5:p.Arg2726Trp | |
| ENST00000559133.5:c.3545C>T | ||
| ENST00000561429.1:n.431C>T | ||
| NM_000138.4:c.8176C>T , LRG_778t1:c.8176C>T | NP_000129.3:p.Arg2726Trp | |
| NM_000138.5:c.8176C>T MANE Select | NP_000129.3:p.Arg2726Trp |