Linked Data
ClinVar Variation Id:
1500956
ClinVar RCV Id:
RCV002017101
dbSNP Id:
rs753038400
ExAC:
1:215901626 A / G
gnomAD v2:
1-215901626-A-G
gnomAD v4:
1-215728284-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728284A>G , CM000663.2:g.215728284A>G | GRCh38 |
| NC_000001.10:g.215901626A>G , CM000663.1:g.215901626A>G | GRCh37 |
| NC_000001.9:g.213968249A>G | NCBI36 |
| NG_009497.1:g.700113T>C | |
| NG_009497.2:g.700165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11812T>C MANE Select | ENSP00000305941.3:p.Tyr3938His | |
| ENST00000674083.1:c.11812T>C | ENSP00000501296.1:p.Tyr3938His | |
| ENST00000307340.7:c.11812T>C | ENSP00000305941.3:p.Tyr3938His | |
| NM_206933.2:c.11812T>C | NP_996816.2:p.Tyr3938His | |
| NM_206933.3:c.11812T>C | NP_996816.2:p.Tyr3938His | |
| NM_206933.4:c.11812T>C MANE Select | NP_996816.3:p.Tyr3938His |