Linked Data
ClinVar Variation Id:
2718504
ClinVar RCV Id:
RCV003592842
dbSNP Id:
rs1199524272
gnomAD v2:
14-50666460-C-T
gnomAD v4:
14-50199742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199742C>T , CM000676.2:g.50199742C>T | GRCh38 |
| NC_000014.8:g.50666460C>T , CM000676.1:g.50666460C>T | GRCh37 |
| NC_000014.7:g.49736210C>T | NCBI36 |
| NG_051073.1:g.36952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.459G>A MANE Select | ENSP00000216373.5:p.Arg153= | |
| ENST00000216373.9:c.459G>A | ENSP00000216373.5:p.Arg153= | |
| ENST00000543680.5:c.459G>A | ENSP00000445328.1:p.Arg153= | |
| ENST00000555666.1:n.638G>A | ||
| ENST00000556469.5:n.430G>A | ||
| NM_006939.2:c.459G>A | NP_008870.2:p.Arg153= | |
| XM_005268021.1:c.279G>A | XP_005268078.1:p.Arg93= | |
| XM_011537103.1:c.420G>A | XP_011535405.1:p.Arg140= | |
| XM_011537104.1:c.459G>A | XP_011535406.1:p.Arg153= | |
| XR_943842.1:n.1039+15870C>T | ||
| XR_943843.1:n.1039+15870C>T | ||
| NM_006939.3:c.459G>A | NP_008870.2:p.Arg153= | |
| NM_006939.4:c.459G>A MANE Select | NP_008870.2:p.Arg153= |