Linked Data
ClinVar Variation Id:
432
ClinVar RCV Id:
RCV000000460
RCV000030868
RCV000086468
RCV000201291
RCV000735355
RCV001787337
RCV001787359
RCV001787360
RCV001787361
dbSNP Id:
rs3918290
ExAC:
1:97915614 C / T
gnomAD v2:
1-97915614-C-T
gnomAD v3:
1-97450058-C-T
gnomAD v4:
1-97450058-C-T
PubMed:
PMID:7832988
PMID:8051923
PMID:8698850
PMID:8892022
PMID:9470816
PMID:9686374
PMID:10071185
PMID:10803677
PMID:11555601
PMID:11895907
PMID:12360106
PMID:15017333
PMID:16151913
PMID:17000685
PMID:17064846
PMID:17121937
PMID:17165084
PMID:17203168
PMID:17335544
PMID:17700593
PMID:18299612
PMID:18443386
PMID:18600527
PMID:19473056
PMID:19530960
PMID:19858398
PMID:20507294
PMID:20809970
PMID:20819423
PMID:21410976
PMID:21498394
PMID:21919607
PMID:22339448
PMID:22992668
PMID:23481061
PMID:23585145
PMID:23603345
PMID:23891399
PMID:23930673
PMID:24167597
PMID:24590654
PMID:24700034
PMID:24817302
PMID:25381393
PMID:25590979
PMID:26099996
PMID:26216193
PMID:26846104
CIViC:
CA114277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97450058C>T , CM000663.2:g.97450058C>T | GRCh38 |
| NC_000001.10:g.97915614C>T , CM000663.1:g.97915614C>T | GRCh37 |
| NC_000001.9:g.97688202C>T | NCBI36 |
| NG_008807.2:g.476002G>A , LRG_722:g.476002G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.1905+1G>A MANE Select | ENSP00000359211.3:n.1905+1G>A | |
| ENST00000370192.7:c.1905+1G>A | ENSP00000359211.3:n.1905+1G>A | |
| NM_000110.3:c.1905+1G>A , LRG_722t1:c.1905+1G>A | NP_000101.2:n.1905+1G>A | |
| XM_005270562.3:c.1689+1G>A | XP_005270619.2:n.1689+1G>A | |
| XM_006710397.2:c.1905+1G>A | XP_006710460.1:n.1905+1G>A | |
| XM_006710397.3:c.1905+1G>A | XP_006710460.1:n.1905+1G>A | |
| XM_017000507.1:c.1794+1G>A | XP_016855996.1:n.1794+1G>A | |
| XM_017000508.2:c.1410+1G>A | XP_016855997.1:n.1410+1G>A | |
| XM_017000509.2:c.1410+1G>A | XP_016855998.1:n.1410+1G>A | |
| XM_017000510.1:c.1410+1G>A | XP_016855999.1:n.1410+1G>A | |
| NM_000110.4:c.1905+1G>A MANE Select | NP_000101.2:n.1905+1G>A |