Canonical Allele Identifier: CA10602359
Gene:

Linked Data

ClinVar Variation Id: 39357
ClinVar RCV Id: RCV000326411 RCV000782438 RCV000782446 RCV000782447 RCV000782462 RCV000782463 RCV000782505 RCV000782506 RCV000782507 RCV000782508 RCV000782509 RCV000782514 RCV000782515 RCV000782524 RCV000782525 RCV000782529 RCV000782544 RCV000782548 RCV000782549 RCV000782553 RCV000782575 RCV000782576 RCV000782600 RCV000782792 RCV000782857 RCV000782858 RCV000782859 RCV000782860 RCV000782861 RCV000782862 RCV000782863 RCV000782864 RCV000783049 RCV000783050 RCV000783051 RCV000783052 RCV000783053 RCV000783054 RCV000783055 RCV000783056 RCV000783077 RCV000783078 RCV000783079 RCV000783087 RCV000783091 RCV000783097 RCV000783101 RCV000783112 RCV000783122 RCV000783123 RCV000783131 RCV000783223 RCV000783254 RCV000783255 RCV000783256 RCV000783257 RCV000783258 RCV000783259 RCV000783260 RCV000783372 RCV000783384 RCV000783401 RCV000783402 RCV000783403 RCV000783404 RCV000783405 RCV000783406 RCV000783512 RCV000783513 RCV000783526 RCV000783530 RCV000783536 RCV000783557 RCV000783558 RCV000783559 RCV000783568 RCV000783666 RCV000783667 RCV000783668 RCV000783669 RCV000783670 RCV000783671 RCV000783735 RCV000783759 RCV000783763 RCV000783764 RCV000783768 RCV000783783 RCV000783787 RCV000783788 RCV000783821 RCV000783822 RCV000783826 RCV000783827 RCV000783828 RCV000783829 RCV000783830 RCV000783848 RCV000783849 RCV000783985 RCV000783986 RCV000784024 RCV000784049 RCV000784050 RCV000784083 RCV000784084 RCV000784085 RCV000784086 RCV000784087 RCV000784088 RCV000784089 RCV000784090 RCV000784285 RCV000784286 RCV000784287 RCV000784288 RCV000784315 RCV000784322 RCV000784332 RCV000784336 RCV000784353 RCV000784359 RCV000784433 RCV000784435 RCV000784436 RCV000784437 RCV000784438 RCV000784439 RCV000784440 RCV000784472 RCV000784489 RCV000784549 RCV000784638 RCV000784639 RCV000784745 RCV000784752 RCV000784753 RCV000784759 RCV000784763 RCV000784773 RCV000784779 RCV000784789 RCV000784868 RCV000784869 RCV000784870 RCV000784871 RCV000784872 RCV000784873
dbSNP Id: rs12248560
gnomAD v2: 10-96521657-C-T
gnomAD v3: 10-94761900-C-T
gnomAD v4: 10-94761900-C-T
MyVariant Identifiers: chr10:g.96521657C>T (hg19) chr10:g.94761900C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94761900C>T , CM000672.2:g.94761900C>T GRCh38
NC_000010.10:g.96521657C>T , CM000672.1:g.96521657C>T GRCh37
NC_000010.9:g.96511647C>T NCBI36
NG_008384.2:g.4195C>T
NG_008384.3:g.4220C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-13158C>T ENSP00000483243.1:n.932-13158C>T
Search 100 bp 5'
Search 100 bp 3'