Linked Data
ClinVar Variation Id:
48611
ClinVar RCV Id:
RCV000041937
RCV000504790
RCV000666550
RCV000760327
RCV001075814
RCV001193386
RCV001273709
RCV001376393
RCV003225026
dbSNP Id:
rs397518041
gnomAD v2:
1-216019240-C-T
gnomAD v3:
1-215845898-C-T
gnomAD v4:
1-215845898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215845898C>T , CM000663.2:g.215845898C>T | GRCh38 |
| NC_000001.10:g.216019240C>T , CM000663.1:g.216019240C>T | GRCh37 |
| NC_000001.9:g.214085863C>T | NCBI36 |
| NG_009497.1:g.582499G>A | |
| NG_009497.2:g.582551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8981G>A MANE Select | ENSP00000305941.3:p.Trp2994Ter | |
| ENST00000674083.1:c.8981G>A | ENSP00000501296.1:p.Trp2994Ter | |
| ENST00000307340.7:c.8981G>A | ENSP00000305941.3:p.Trp2994Ter | |
| NM_206933.2:c.8981G>A | NP_996816.2:p.Trp2994Ter | |
| NM_206933.3:c.8981G>A | NP_996816.2:p.Trp2994Ter | |
| NM_206933.4:c.8981G>A MANE Select | NP_996816.3:p.Trp2994Ter |