Linked Data
ClinVar Variation Id:
36981
dbSNP Id:
rs368260932
ExAC:
7:21789320 C / T
gnomAD v2:
7-21789320-C-T
gnomAD v3:
7-21749702-C-T
gnomAD v4:
7-21749702-C-T
PubMed:
PMID:22102620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21749702C>T , CM000669.2:g.21749702C>T | GRCh38 |
| NC_000007.13:g.21789320C>T , CM000669.1:g.21789320C>T | GRCh37 |
| NC_000007.12:g.21755845C>T | NCBI36 |
| NG_012886.2:g.211488C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.8698C>T MANE Select | ENSP00000475939.1:p.Arg2900Ter | |
| ENST00000328843.10:c.8719C>T | ENSP00000330671.7:p.Arg2907Ter | |
| ENST00000409508.7:c.8698C>T | ENSP00000475939.1:p.Arg2900Ter | |
| ENST00000620169.4:c.8719C>T | ENSP00000481693.1:p.Arg2907Ter | |
| NM_001277115.1:c.8698C>T | NP_001264044.1:p.Arg2900Ter | |
| NM_001277115.2:c.8698C>T MANE Select | NP_001264044.1:p.Arg2900Ter |