Linked Data
ClinVar Variation Id:
11988
ClinVar RCV Id:
RCV000012768
dbSNP Id:
rs121964978
gnomAD v4:
9-6645498-A-G
PubMed:
PMID:15864413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645498A>G , CM000671.2:g.6645498A>G | GRCh38 |
| NC_000009.11:g.6645498A>G , CM000671.1:g.6645498A>G | GRCh37 |
| NC_000009.10:g.6635498A>G | NCBI36 |
| NG_016397.1:g.5195T>C , LRG_643:g.5195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2T>C MANE Select | ENSP00000370737.4:p.Met1Thr | |
| ENST00000321612.6:c.2T>C | ENSP00000370737.3:p.Met1Thr | |
| NM_000170.2:c.2T>C , LRG_643t1:c.2T>C | NP_000161.2:p.Met1Thr | |
| XM_024447726.1:c.509A>G | XP_024303494.1:p.His170Arg | |
| NM_000170.3:c.2T>C MANE Select | NP_000161.2:p.Met1Thr |