Linked Data
ClinVar Variation Id:
6154
ClinVar RCV Id:
RCV000006529
dbSNP Id:
rs121434393
PubMed:
PMID:15924139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453674T>A , CM000673.2:g.101453674T>A | GRCh38 |
| NC_000011.9:g.101324405T>A , CM000673.1:g.101324405T>A | GRCh37 |
| NC_000011.8:g.100829615T>A | NCBI36 |
| NG_011476.1:g.135255A>T | |
| NG_011476.2:g.135255A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344327.8:c.2620A>T MANE Select | ENSP00000340913.3:p.Lys874Ter | |
| ENST00000344327.7:c.2620A>T | ENSP00000340913.3:p.Lys874Ter | |
| ENST00000348423.8:c.2272A>T | ENSP00000343672.4:p.Lys758Ter | |
| ENST00000360497.4:c.2455A>T | ENSP00000353687.4:p.Lys819Ter | |
| ENST00000532133.5:c.2386A>T | ENSP00000435574.1:p.Lys796Ter | |
| ENST00000532184.1:n.612A>T | ||
| NM_004621.5:c.2620A>T | NP_004612.2:p.Lys874Ter | |
| XM_006718898.2:c.2545A>T | XP_006718961.1:p.Lys849Ter | |
| XM_011542968.1:c.2455A>T | XP_011541270.1:p.Lys819Ter | |
| XM_011542968.3:c.2455A>T | XP_011541270.1:p.Lys819Ter | |
| XM_017018221.2:c.2272A>T | XP_016873710.1:p.Lys758Ter | |
| XR_001747948.2:n.2977A>T | ||
| NM_004621.6:c.2620A>T MANE Select | NP_004612.2:p.Lys874Ter |