Linked Data
ClinVar Variation Id:
42407
ClinVar RCV Id:
RCV000035250
RCV000181574
RCV000701161
RCV000999751
RCV001192803
RCV001374837
RCV004018736
dbSNP Id:
rs113001196
gnomAD v4:
15-48432947-G-A
PubMed:
PMID:3536967
PMID:8563763
PMID:8941093
PMID:11139245
PMID:11700157
PMID:12651868
PMID:14598350
PMID:15241795
PMID:16273536
PMID:16333834
PMID:16571647
PMID:17253931
PMID:17701892
PMID:20375004
PMID:20591885
PMID:20979188
PMID:21594992
PMID:21594993
PMID:21683322
PMID:21907952
PMID:23133647
PMID:23278365
PMID:23897642
PMID:24039054
PMID:24635535
PMID:24665001
PMID:25101912
PMID:25736269
PMID:25979247
PMID:26026792
PMID:26787436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432947G>A , CM000677.2:g.48432947G>A | GRCh38 |
| NC_000015.9:g.48725144G>A , CM000677.1:g.48725144G>A | GRCh37 |
| NC_000015.8:g.46512436G>A | NCBI36 |
| NG_008805.2:g.217842C>T , LRG_778:g.217842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6658C>T | ENSP00000453958.2:p.Arg2220Ter | |
| ENST00000674301.2:c.*109C>T | ENSP00000501333.2:n.*109C>T | |
| ENST00000682170.1:n.267C>T | ||
| ENST00000316623.10:c.6658C>T MANE Select | ENSP00000325527.5:p.Arg2220Ter | |
| ENST00000674301.1:c.1762C>T | ENSP00000501333.1:n.1762C>T | |
| ENST00000316623.9:c.6658C>T | ENSP00000325527.5:p.Arg2220Ter | |
| ENST00000537463.6:c.*2421C>T | ENSP00000440294.2:n.*2421C>T | |
| ENST00000559133.5:c.1965C>T | ||
| NM_000138.4:c.6658C>T , LRG_778t1:c.6658C>T | NP_000129.3:p.Arg2220Ter | |
| NM_000138.5:c.6658C>T MANE Select | NP_000129.3:p.Arg2220Ter |