Linked Data
ClinVar Variation Id:
305941
ClinVar RCV Id:
RCV000389863
dbSNP Id:
rs1790345
gnomAD v2:
11-71145941-G-A
gnomAD v3:
11-71434895-G-A
gnomAD v4:
11-71434895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71434895G>A , CM000673.2:g.71434895G>A | GRCh38 |
| NC_000011.9:g.71145941G>A , CM000673.1:g.71145941G>A | GRCh37 |
| NC_000011.8:g.70823589G>A | NCBI36 |
| NG_012655.2:g.18537C>T , LRG_340:g.18537C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.*480C>T | ENSP00000435707.3:n.*480C>T | |
| ENST00000526780.6:c.*480C>T | ENSP00000435668.2:n.*480C>T | |
| ENST00000682708.1:c.*480C>T | ENSP00000506866.1:n.*480C>T | |
| ENST00000683287.1:c.*480C>T | ENSP00000507607.1:n.*480C>T | |
| ENST00000683714.1:c.*671C>T | ENSP00000508207.1:n.*671C>T | |
| ENST00000684396.1:n.1948C>T | ||
| ENST00000685320.1:c.*480C>T | ENSP00000509319.1:n.*480C>T | |
| ENST00000690257.1:c.*480C>T | ENSP00000510750.1:n.*480C>T | |
| ENST00000355527.8:c.*480C>T MANE Select | ENSP00000347717.4:n.*480C>T | |
| ENST00000355527.7:c.*480C>T | ENSP00000347717.3:n.*480C>T | |
| ENST00000407721.6:c.*480C>T | ENSP00000384739.2:n.*480C>T | |
| ENST00000534795.5:c.319+2917C>T | ||
| NM_001163817.1:c.*480C>T | NP_001157289.1:n.*480C>T | |
| NM_001360.2:c.*480C>T , LRG_340t1:c.*480C>T | NP_001351.2:n.*480C>T | |
| XM_011544777.1:c.*671C>T | XP_011543079.1:n.*671C>T | |
| XM_011544777.2:c.*671C>T | XP_011543079.1:n.*671C>T | |
| NM_001163817.2:c.*480C>T | NP_001157289.1:n.*480C>T | |
| NM_001360.3:c.*480C>T MANE Select | NP_001351.2:n.*480C>T |