Linked Data
ClinVar Variation Id:
178977
dbSNP Id:
rs727504582
ExAC:
1:215901616 C / T
gnomAD v2:
1-215901616-C-T
gnomAD v3:
1-215728274-C-T
gnomAD v4:
1-215728274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728274C>T , CM000663.2:g.215728274C>T | GRCh38 |
| NC_000001.10:g.215901616C>T , CM000663.1:g.215901616C>T | GRCh37 |
| NC_000001.9:g.213968239C>T | NCBI36 |
| NG_009497.1:g.700123G>A | |
| NG_009497.2:g.700175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11822G>A MANE Select | ENSP00000305941.3:p.Arg3941Gln | |
| ENST00000674083.1:c.11822G>A | ENSP00000501296.1:p.Arg3941Gln | |
| ENST00000307340.7:c.11822G>A | ENSP00000305941.3:p.Arg3941Gln | |
| NM_206933.2:c.11822G>A | NP_996816.2:p.Arg3941Gln | |
| NM_206933.3:c.11822G>A | NP_996816.2:p.Arg3941Gln | |
| NM_206933.4:c.11822G>A MANE Select | NP_996816.3:p.Arg3941Gln |