Linked Data
ClinVar Variation Id:
10214
ClinVar RCV Id:
RCV000010927
dbSNP Id:
rs387906443
PubMed:
PMID:1908096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965996A>G , CM000685.2:g.154965996A>G | GRCh38 |
| NC_000023.10:g.154194271A>G , CM000685.1:g.154194271A>G | GRCh37 |
| NC_000023.9:g.153847465A>G | NCBI36 |
| NG_011403.1:g.61728T>C | |
| NG_011403.2:g.61728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1417T>C MANE Select | ENSP00000353393.4:p.Tyr473His | |
| ENST00000647125.1:c.*1293T>C | ENSP00000496062.1:n.*1293T>C | |
| ENST00000360256.8:c.1417T>C | ENSP00000353393.4:p.Tyr473His | |
| ENST00000483822.2:n.237T>C | ||
| NM_000132.3:c.1417T>C | NP_000123.1:p.Tyr473His | |
| XM_011531126.1:c.1312T>C | XP_011529428.1:p.Tyr438His | |
| NM_000132.4:c.1417T>C MANE Select | NP_000123.1:p.Tyr473His |