Linked Data
ClinVar Variation Id:
10282
ClinVar RCV Id:
RCV000010995
dbSNP Id:
rs28933676
PubMed:
PMID:1639429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904864T>G , CM000685.2:g.154904864T>G | GRCh38 |
| NC_000023.10:g.154133139T>G , CM000685.1:g.154133139T>G | GRCh37 |
| NC_000023.9:g.153786333T>G | NCBI36 |
| NG_011403.1:g.122860A>C | |
| NG_011403.2:g.122860A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5533A>C MANE Select | ENSP00000353393.4:p.Thr1845Pro | |
| ENST00000360256.8:c.5533A>C | ENSP00000353393.4:p.Thr1845Pro | |
| NM_000132.3:c.5533A>C | NP_000123.1:p.Thr1845Pro | |
| XM_011531126.1:c.5428A>C | XP_011529428.1:p.Thr1810Pro | |
| NM_000132.4:c.5533A>C MANE Select | NP_000123.1:p.Thr1845Pro |