Linked Data
ClinVar Variation Id:
417916
ClinVar RCV Id:
RCV000477918
dbSNP Id:
rs1060499595
gnomAD v4:
14-60648730-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648730T>A , CM000676.2:g.60648730T>A | GRCh38 |
| NC_000014.8:g.61115448T>A , CM000676.1:g.61115448T>A | GRCh37 |
| NC_000014.7:g.60185201T>A | NCBI36 |
| NG_008231.1:g.5708A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645694.3:c.460A>T MANE Select | ENSP00000494686.1:p.Lys154Ter | |
| ENST00000247182.6:c.460A>T | ENSP00000247182.5:p.Lys154Ter | |
| ENST00000553535.2:n.249-2153A>T | ||
| ENST00000554986.2:c.42-2153A>T | ENSP00000452700.2:n.42-2153A>T | |
| ENST00000555955.3:n.1198-2153A>T | ||
| NM_005982.3:c.460A>T | NP_005973.1:p.Lys154Ter | |
| XM_017021602.2:c.460A>T | XP_016877091.1:p.Lys154Ter | |
| NM_005982.4:c.460A>T MANE Select | NP_005973.1:p.Lys154Ter |