Linked Data
ClinVar Variation Id:
6153
ClinVar RCV Id:
RCV000006528
dbSNP Id:
rs121434392
PubMed:
PMID:15924139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101504161A>T , CM000673.2:g.101504161A>T | GRCh38 |
| NC_000011.9:g.101374892A>T , CM000673.1:g.101374892A>T | GRCh37 |
| NC_000011.8:g.100880102A>T | NCBI36 |
| NG_011476.1:g.84768T>A | |
| NG_011476.2:g.84768T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344327.8:c.808T>A MANE Select | ENSP00000340913.3:p.Ser270Thr | |
| ENST00000344327.7:c.808T>A | ENSP00000340913.3:p.Ser270Thr | |
| ENST00000348423.8:c.808T>A | ENSP00000343672.4:p.Ser270Thr | |
| ENST00000360497.4:c.808T>A | ENSP00000353687.4:p.Ser270Thr | |
| ENST00000532133.5:c.808T>A | ENSP00000435574.1:p.Ser270Thr | |
| NM_004621.5:c.808T>A | NP_004612.2:p.Ser270Thr | |
| XM_006718898.2:c.808T>A | XP_006718961.1:p.Ser270Thr | |
| XM_011542968.1:c.643T>A | XP_011541270.1:p.Ser215Thr | |
| XM_011542969.1:c.808T>A | XP_011541271.1:p.Ser270Thr | |
| XM_011542968.3:c.643T>A | XP_011541270.1:p.Ser215Thr | |
| XM_017018221.2:c.808T>A | XP_016873710.1:p.Ser270Thr | |
| XR_001747948.2:n.1164T>A | ||
| NM_004621.6:c.808T>A MANE Select | NP_004612.2:p.Ser270Thr |